Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ADAMTS14 140766 broad.mit.edu 37 10 72503418 72503418 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:72503418G>T ENST00000373208.1 + 13 2048 c.2048G>T c.(2047-2049)tGt>tTt p.C683F ADAMTS14_ENST00000373207.1_Missense_Mutation_p.C680F NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 680 Cys-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TACAGCGTCTGTGCGCGTGGC 0.652000 6 22 0.217242 0.222567 1 1 0 DEF6 50619 broad.mit.edu 37 6 35289067 35289067 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:35289067C>A ENST00000316637.5 + 11 1781 c.1776C>A c.(1774-1776)ggC>ggA p.G592G DEF6_ENST00000542066.1_Silent_p.G337G NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 592 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GATCCCAGGGCAACAGGACCC 0.637000 20 116 1.56452e-12 2.91951e-12 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238271923 238271923 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:238271923G>T ENST00000295550.4 - 14 6488 c.6036C>A c.(6034-6036)gaC>gaA p.D2012E COL6A3_ENST00000347401.3_Missense_Mutation_p.D1811E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1806E|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1812E|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1806E|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1405E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2012 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CATAATCCAAGTCCAGCAAGT 0.463000 6 129 3.59834e-05 4.67113e-05 1 1 0 PREX1 57580 broad.mit.edu 37 20 47244086 47244086 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:47244086C>A ENST00000371941.3 - 39 4959 c.4937_splice c.e39+1 p.R1646_splice PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871.2 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1646 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGCCACTCACCGCGGAGCACC 0.627000 10 55 4.68919e-08 7.65657e-08 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157668362 157668362 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:157668362C>T ENST00000368184.3 - 4 401 c.110G>A c.(109-111)gGa>gAa p.G37E FCRL3_ENST00000368186.5_Missense_Mutation_p.G37E NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 37 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity p.G37E(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CACTTTTTCTCCTTTGAAGGC 0.458000 12 41 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651702 1651702 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:1651702C>A ENST00000399676.2 + 1 670 c.632C>A c.(631-633)tCc>tAc p.S211Y NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 211 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGTGGATCATCCTGCTGCCAA 0.582000 9 167 7.48243e-07 1.11702e-06 1 1 0 RYR2 6262 broad.mit.edu 37 1 237608790 237608790 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:237608790G>T ENST00000366574.2 + 14 1577 c.1260G>T c.(1258-1260)cgG>cgT p.R420R RYR2_ENST00000360064.6_Silent_p.R418R|RYR2_ENST00000542537.1_Silent_p.R404R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 420 R -> W (in CPVT1). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGTTATCCGGAGCACAGTCT 0.383000 16 52 1.3612e-06 2.01054e-06 1 1 0 SLC26A3 1811 broad.mit.edu 37 7 107423787 107423787 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:107423787G>C ENST00000340010.5 - 9 1166 c.982C>G c.(982-984)Cct>Gct p.P328A SLC26A3_ENST00000422236.2_Missense_Mutation_p.P293A NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 328 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GGTGTAATAGGGGGCTGAAAT 0.408000 8 56 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24593432 24593432 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:24593432C>A ENST00000264463.4 - 2 675 c.168G>T c.(166-168)tgG>tgT p.W56C RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 56 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GATTCCACATCCAACCACGTT 0.383000 HNSCC(23;0.051) 22 133 1.50039e-11 2.7268e-11 1 1 0 ITK 3702 broad.mit.edu 37 5 156671297 156671297 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:156671297C>A ENST00000422843.3 + 13 1410 c.1258C>A c.(1258-1260)Cag>Aag p.Q420K ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 420 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAAACTGGTGCAGCTGTATGG 0.522000 T SYK peripheral T-cell lymphoma 9 47 0.00448238 0.00499636 1 1 0 MPDZ 8777 broad.mit.edu 37 9 13158032 13158032 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:13158032C>A ENST00000319217.7 - 24 3684 c.3437G>T c.(3436-3438)tGg>tTg p.W1146L MPDZ_ENST00000546205.1_Missense_Mutation_p.W1160L|MPDZ_ENST00000381015.4_Missense_Mutation_p.W1146L|MPDZ_ENST00000381022.2_Missense_Mutation_p.W1146L|MPDZ_ENST00000541718.1_Missense_Mutation_p.W1146L|MPDZ_ENST00000538841.1_Missense_Mutation_p.W38L|MPDZ_ENST00000447879.1_Missense_Mutation_p.W1146L|MPDZ_ENST00000536827.1_Missense_Mutation_p.W1146L NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1146 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GGGCTGATTCCAATTGCTATA 0.413000 5 17 1.23904e-05 1.68703e-05 1 1 0 RALGAPB 57148 broad.mit.edu 37 20 37179747 37179747 + Missense_Mutation SNP A A C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:37179747A>C ENST00000262879.6 + 21 3327 c.3043A>C c.(3043-3045)Aat>Cat p.N1015H RALGAPB_ENST00000397038.1_Missense_Mutation_p.N793H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.N1011H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.N1015H Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1015 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGTTCCTAAAAATGACGTTGG 0.378000 17 185 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75898442 75898442 + Missense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:75898442A>T ENST00000262207.4 + 2 688 c.220A>T c.(220-222)Agt>Tgt p.S74C CRISPLD1_ENST00000519798.1_Intron NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 74 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TAAATTACGAAGTCAGGTGTA 0.403000 33 81 0 0 1 0 0 FAM78B 149297 broad.mit.edu 37 1 166135280 166135280 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:166135280C>A ENST00000338353.3 - 2 795 c.206G>T c.(205-207)gGc>gTc p.G69V FAM78B_ENST00000354422.3_Missense_Mutation_p.G69V Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 69 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CTGAATCCAGCCCACCACCCA 0.657000 3 21 0.004672 0.00516639 1 1 0 GABRR3 200959 broad.mit.edu 37 3 97731363 97731363 + RNA SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:97731363G>T ENST00000472788.1 - 0 356 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 GGAAAGGAGAGCCTCTCGTCT 0.393000 6 44 0.217242 0.222567 1 1 0 WDR65 149465 broad.mit.edu 37 1 43664270 43664270 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:43664270G>C ENST00000372492.4 + 8 1705 c.1381G>C c.(1381-1383)Gat>Cat p.D461H WDR65_ENST00000528956.1_Missense_Mutation_p.D461H NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 461 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCTACTCATTGATGATATACG 0.408000 11 53 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620577 14620577 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:14620577C>A ENST00000403951.2 - 19 1942 c.e19-1 DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000444700.2_Splice_Site|DGKB_ENST00000402815.1_Splice_Site Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTGGCCTTTTCTGCAGAATAA 0.393000 12 29 2.31682e-05 3.07439e-05 1 1 0 SEC24A 10802 broad.mit.edu 37 5 134010795 134010795 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:134010795G>T ENST00000398844.2 + 6 1327 c.1039G>T c.(1039-1041)Ggt>Tgt p.G347C SEC24A_ENST00000322887.4_Missense_Mutation_p.G347C NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 347 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAACCAGAGGGTCTAAGAGT 0.368000 11 47 3.86212e-05 4.96728e-05 1 1 0 LTBP1 4052 broad.mit.edu 37 2 33477873 33477873 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:33477873G>T ENST00000404816.2 + 11 2482 c.2129G>T c.(2128-2130)tGg>tTg p.W710L LTBP1_ENST00000402934.1_Missense_Mutation_p.W384L|LTBP1_ENST00000354476.3_Missense_Mutation_p.W710L|LTBP1_ENST00000407925.1_Missense_Mutation_p.W384L|LTBP1_ENST00000418533.2_Missense_Mutation_p.W384L|LTBP1_ENST00000404525.1_Missense_Mutation_p.W384L|LTBP1_ENST00000390003.4_Missense_Mutation_p.W384L Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 710 TB 2. Missing (in Ref. 1; AAA61160 and 2; AAM03124). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGCAAGGCCTGGGGCCCACAC 0.552000 16 101 2.48551e-13 4.70109e-13 1 1 0 TENM1 10178 broad.mit.edu 37 X 123518485 123518485 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:123518485G>T ENST00000422452.2 - 30 6359 c.6296C>A c.(6295-6297)aCt>aAt p.T2099N STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.T2092N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CACTGTAGTAGTTATGACCTG 0.373000 14 99 0.00185496 0.00212431 1 1 0 C10orf137 26098 broad.mit.edu 37 10 127426967 127426967 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:127426967G>T ENST00000337623.3 + 14 1937 c.1832G>T c.(1831-1833)gGg>gTg p.G611V C10orf137_ENST00000356792.4_Missense_Mutation_p.G645V NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCCTCAAGAGGGGGTCCCGAG 0.433000 6 57 3.59834e-05 4.67113e-05 1 1 0 MAPK6 5597 broad.mit.edu 37 15 52342238 52342238 + Missense_Mutation SNP C C G rs149172685 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:52342238C>G ENST00000261845.5 + 3 1411 c.604C>G c.(604-606)Ctt>Gtt p.L202V NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 202 Protein kinase. cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) ATCTCCACGTCTTTTACTTTC 0.363000 5 67 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101192912 101192912 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:101192912G>T ENST00000264254.6 + 6 1052 c.674G>T c.(673-675)cGg>cTg p.R225L NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 225 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 TCCTCAGTGCGGCGCTCTGTC 0.478000 8 77 5.18039e-06 7.26646e-06 1 1 0 OR8K3 219473 broad.mit.edu 37 11 56085828 56085828 + Nonsense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:56085828G>T ENST00000312711.1 + 1 46 c.46G>T c.(46-48)Gga>Tga p.G16* NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CATTCTTACGGGAATCACAGA 0.418000 6 121 0.000157383 0.000196965 1 1 0 OR6B1 135946 broad.mit.edu 37 7 143701966 143701966 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:143701966C>A ENST00000408922.2 + 1 945 c.877C>A c.(877-879)Cga>Aga p.R293R NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CCTAAGAAACCGAGAGGTCAA 0.433000 22 51 0.000175454 0.000218925 1 1 0 NME8 51314 broad.mit.edu 37 7 37916496 37916496 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:37916496C>A ENST00000199447.4 + 12 1253 c.881C>A c.(880-882)gCt>gAt p.A294D EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.A294D NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 294 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GAGGATGCAGCTAATGTTGCT 0.313000 5 37 0.014758 0.0158991 1 1 0 PDZRN4 29951 broad.mit.edu 37 12 41967268 41967268 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:41967268A>G ENST00000298919.7 + 10 2295 c.1907A>G c.(1906-1908)gAc>gGc p.D636G PDZRN4_ENST00000402685.2_Missense_Mutation_p.D896G|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D638G Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 896 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) ATTAGGAGCGACGGGACACGG 0.517000 6 104 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806262 54806262 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:54806262G>A ENST00000306858.7 + 5 2609 c.2493G>A c.(2491-2493)aaG>aaA p.K831K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 831 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTAGAAGAAAGCATTCTTCCT 0.378000 9 37 0 0 1 0 0 RHBDD1 84236 broad.mit.edu 37 2 227731981 227731981 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:227731981G>A ENST00000392062.2 + 5 1037 c.513G>A c.(511-513)ccG>ccA p.P171P RHBDD1_ENST00000341329.3_Silent_p.P171P NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 171 integral to membrane serine-type endopeptidase activity p.P171P(3) breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TTCCTGTACCGAACAGATTTG 0.398000 8 158 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35045619 35045619 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:35045619G>A ENST00000312292.5 + 2 3040 c.2993G>A c.(2992-2994)aGc>aAc p.S998N C9orf131_ENST00000421362.2_Missense_Mutation_p.S950N|C9orf131_ENST00000354479.5_Missense_Mutation_p.S925N NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 998 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGGGGCCAGAGCTCTCAACAC 0.582000 24 84 0 0 1 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86172125 86172125 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:86172125C>A ENST00000431532.2 - 3 753 c.605_splice c.e3+1 p.S202_splice ZNHIT6_ENST00000370574.3_Splice_Site_p.S241_splice NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 241 Glu-rich. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 ACATGTATACCTGCAGGAATA 0.373000 7 86 8.12818e-05 0.000102646 1 1 0 GPR64 10149 broad.mit.edu 37 X 19009093 19009093 + Silent SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:19009093A>T ENST00000354791.3 - 28 3136 c.2895T>A c.(2893-2895)acT>acA p.T965T GPR64_ENST00000357544.3_Silent_p.T951T|GPR64_ENST00000360279.4_Silent_p.T959T|GPR64_ENST00000357991.3_Silent_p.T978T|GPR64_ENST00000379869.3_Silent_p.T981T|GPR64_ENST00000356606.4_Silent_p.T967T|GPR64_ENST00000379876.1_Silent_p.T957T|GPR64_ENST00000379878.3_Silent_p.T965T|GPR64_ENST00000379873.2_Silent_p.T930T|GPR64_ENST00000340581.3_Silent_p.T862T Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 981 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GCTGTTTTCCAGTGAAATCGT 0.453000 24 115 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189870959 189870959 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:189870959G>T ENST00000304636.3 + 42 3237 c.3067G>T c.(3067-3069)Ggc>Tgc p.G1023C COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1023 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTCTTCCAGGCCGAGATGG 0.363000 7 48 1.06961e-07 1.70648e-07 1 1 0 OR4B1 119765 broad.mit.edu 37 11 48238491 48238491 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:48238491G>A ENST00000309562.2 + 1 148 c.130G>A c.(130-132)Gtt>Att p.V44I NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TGGCCTCATCGTTCTGACGGT 0.522000 44 120 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75559952 75559952 + Splice_Site SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:75559952G>A ENST00000398706.2 + 22 5066 c.4849_splice c.e22+1 p.V1617_splice NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000605216.1_Splice_Site_p.V1612_splice|ZSWIM8_ENST00000604524.1_Splice_Site_p.V1430_splice|ZSWIM8_ENST00000604729.1_Intron NM_015037.3 NP_055852.2 zinc finger, SWIM-type containing 8 CCAGGGAACAGGTGAATGGAG 0.587000 5 29 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42429563 42429563 + Nonsense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:42429563C>T ENST00000053867.3 + 11 1422 c.1360C>T c.(1360-1362)Cag>Tag p.Q454* GRN_ENST00000589265.1_Nonsense_Mutation_p.Q297* NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 454 Q -> G (in Ref. 3; AAA58617). signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCCGGTGGGGCAGACCTGCTG 0.672000 4 55 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16035675 16035675 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:16035675C>T ENST00000326742.7 - 5 544 c.543G>A c.(541-543)ctG>ctA p.L181L CYP4F11_ENST00000402119.3_Silent_p.L181L|CYP4F11_ENST00000248041.7_Silent_p.L181L Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 181 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CCTCTGAGGCCAGGCGCTGCC 0.537000 10 37 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48663851 48663851 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:48663851G>T ENST00000334136.5 + 5 496 c.318G>T c.(316-318)ccG>ccT p.P106P HDAC6_ENST00000444343.2_Silent_p.P120P|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Silent_p.P51P|HDAC6_ENST00000376619.2_Silent_p.P106P Q9UBN7 HDAC6_HUMAN histone deacetylase 6 106 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) CCAGCTTCCCGGAAGGCCCTG 0.587000 3 13 0.115264 0.120451 1 1 0 HSPA1L 3305 broad.mit.edu 37 6 31778728 31778728 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:31778728C>T ENST00000375654.4 - 2 1211 c.1022G>A c.(1021-1023)gGc>gAc p.G341D HSPA1L_ENST00000417199.3_Missense_Mutation_p.G341D NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 341 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GCGGGTGGAGCCCCCTACTAA 0.522000 6 43 0 0 1 0 0 IGHV1OR16-4 28312 broad.mit.edu 37 16 33013864 33013864 + RNA SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:33013864G>T ENST00000567619.1 - 0 499 CTCCTGCCAGGCTTCTGGATA 0.552000 11 112 5.50884e-06 7.67565e-06 1 1 0 CACNG4 27092 broad.mit.edu 37 17 65026640 65026640 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:65026640T>A ENST00000262138.3 + 4 506 c.504T>A c.(502-504)agT>agA p.S168R NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 168 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GTGACCCGAGTGACAAGCGGG 0.547000 12 117 0 0 1 0 0 MOCS2 4338 broad.mit.edu 37 5 52397241 52397241 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:52397241C>A ENST00000396954.3 - 5 1002 c.325G>T c.(325-327)Gac>Tac p.D109Y MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000508922.1_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) TGCCTAATGTCACTACAAATC 0.358000 8 149 0.0477658 0.0505471 1 1 0 CEP41 95681 broad.mit.edu 37 7 130042489 130042489 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:130042489C>A ENST00000223208.4 - 7 844 c.574_splice c.e7+1 p.A192_splice CEP41_ENST00000541543.1_Splice_Site_p.A176_splice|CEP41_ENST00000343969.5_Splice_Site_p.A192_splice NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 192 Rhodanese. G2/M transition of mitotic cell cycle centrosome|cytosol TCTCTCTTACCTCCAACAATG 0.507000 9 91 0.00621372 0.00681715 1 1 0 TSGA10 80705 broad.mit.edu 37 2 99681428 99681428 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:99681428C>A ENST00000393483.3 - 16 2222 c.1378G>T c.(1378-1380)Gat>Tat p.D460Y TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 460 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TTGAGGGAATCTACTTTTTCT 0.373000 7 58 2.17888e-05 2.91914e-05 1 1 0 LUM 4060 broad.mit.edu 37 12 91502627 91502627 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:91502627G>T ENST00000266718.4 - 2 584 c.130C>A c.(130-132)Cct>Act p.P44T LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 44 Cys-rich.|LRRNT. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TAGCTTTCAGGGCAGTTACAT 0.428000 8 62 5.18039e-06 7.26646e-06 1 1 0 APMAP 57136 broad.mit.edu 37 20 24944498 24944498 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:24944498C>T ENST00000217456.2 - 9 1492 c.1202G>A c.(1201-1203)gGc>gAc p.G401D APMAP_ENST00000447138.1_3'UTR NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein CCTGAAAGAGCCCAGGTACAG 0.622000 13 74 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601807 41601807 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:41601807G>T ENST00000330436.3 + 9 1446 c.1446G>T c.(1444-1446)acG>acT p.T482T NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 482 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCTTTGCCACGATCCCACGAA 0.612000 26 89 4.06085e-26 8.61642e-26 1 1 0 FBXO18 84893 broad.mit.edu 37 10 5965660 5965660 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:5965660G>T ENST00000379999.5 + 17 2655 c.e17+1 FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000379994.1_Intron NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CGGAGGAAACGTGAGTACCCA 0.493000 6 23 0.0293803 0.03117 1 1 0 LILRA3 11026 broad.mit.edu 37 19 54803210 54803210 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:54803210A>G ENST00000391745.1 - 8 834 c.518T>C c.(517-519)cTg>cCg p.L173P LILRA3_ENST00000251390.3_Missense_Mutation_p.L156P|LILRA3_ENST00000391744.3_Missense_Mutation_p.L156P leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TTCCTTACACAGAATGAAGCC 0.577000 12 131 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89607332 89607332 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:89607332C>A ENST00000294671.2 - 9 1504 c.e9-1 NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CCTCGTCTGCCTGAAGAACCA 0.473000 11 62 5.16669e-11 9.30894e-11 1 1 0 CMTM5 116173 broad.mit.edu 37 14 23847615 23847615 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:23847615G>T ENST00000359320.3 + 2 628 c.184G>T c.(184-186)Gcg>Tcg p.A62S CMTM5_ENST00000339180.4_Missense_Mutation_p.A62S|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.A62S|CMTM5_ENST00000397227.3_Intron NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 62 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CTACATGGCCGCGGCGCTACT 0.567000 17 77 4.7546e-09 8.11194e-09 1 1 0 LOC645166 645166 broad.mit.edu 37 1 148932887 148932887 + RNA SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:148932887G>T ENST00000539543.1 + 0 143 NR_027355.1 GTGAGGTACAGGCTCAGTCTG 0.637000 7 130 0.00307968 0.0034792 1 1 0 RNF165 494470 broad.mit.edu 37 18 44013280 44013280 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr18:44013280C>A ENST00000269439.7 + 2 240 c.189C>A c.(187-189)ggC>ggA p.G63G RNF165_ENST00000543885.1_Intron NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 63 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) CGCAGCCAGGCCTCAGCGCCC 0.731000 4 15 1 1 1 1 0 CAMKK2 10645 broad.mit.edu 37 12 121686512 121686512 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:121686512C>A ENST00000324774.5 - 14 2177 c.1349G>T c.(1348-1350)gGg>gTg p.G450V CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000545538.1_Missense_Mutation_p.G237V|CAMKK2_ENST00000392473.2_Missense_Mutation_p.G450V|CAMKK2_ENST00000412367.2_Missense_Mutation_p.G450V|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.G450V|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G450V|CAMKK2_ENST00000337174.3_Missense_Mutation_p.G450V|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G450V|CAMKK2_ENST00000538733.1_Intron NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 450 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CGGCTCCGCCCCATGCCTCGT 0.642000 10 110 7.03913e-09 1.19608e-08 1 1 0 NPAS1 4861 broad.mit.edu 37 19 47524413 47524413 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:47524413C>A ENST00000602212.1 + 2 329 c.109C>A c.(109-111)Ccg>Acg p.P37T NPAS1_ENST00000449844.2_Missense_Mutation_p.P37T|NPAS1_ENST00000602189.1_Intron Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 37 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) GGTCAAGGCGCCGTCCGGACC 0.711000 4 9 0.184627 0.191025 1 1 0 USP29 57663 broad.mit.edu 37 19 57642003 57642003 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:57642003C>A ENST00000254181.4 + 4 2414 c.1960C>A c.(1960-1962)Cag>Aag p.Q654K USP29_ENST00000598197.1_Missense_Mutation_p.Q654K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 654 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTGATGGACCAGGGAGACAT 0.498000 11 40 1.58986e-06 2.34001e-06 1 1 0 KHDRBS3 10656 broad.mit.edu 37 8 136554896 136554896 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:136554896G>T ENST00000355849.5 + 3 617 c.e3-1 KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding p.?(1) NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) ATTTTTCCTAGTTCAACTTTG 0.358000 15 47 6.31663e-08 1.02737e-07 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95494789 95494789 + RNA SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:95494789C>G ENST00000432432.2 - 0 1155 NR_040113.1 TTGTACTGCTCCTTTCACAGC 0.343000 28 87 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65543199 65543199 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:65543199T>A ENST00000358402.4 - 4 615 c.451A>T c.(451-453)Agc>Tgc p.S151C MAX_ENST00000555932.1_Silent_p.P73P|MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Missense_Mutation_p.S97C|MAX_ENST00000555419.1_Missense_Mutation_p.S124C|MAX_ENST00000358664.4_Missense_Mutation_p.S160C|MAX_ENST00000284165.6_3'UTR NM_145112.1 NP_660087.1 P61244 MAX_HUMAN MYC associated factor X 160 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GTGGCTTAGCTGGCCTCCATC 0.562000 8 111 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31747282 31747282 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:31747282G>C ENST00000375663.3 - 28 3760 c.3320C>G c.(3319-3321)gCc>gGc p.A1107G NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 1107 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CAGCTCAAGGGCGGCTTCTGC 0.687000 7 21 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890868 31890868 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:31890868C>G ENST00000253354.1 + 11 1289 c.1128C>G c.(1126-1128)ttC>ttG p.F376L BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 376 extracellular space lipid binding GCCCTTTGTTCACCCTGGGCA 0.522000 24 56 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196651868 196651868 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:196651868G>T ENST00000312428.6 - 58 10844 c.10744C>A c.(10744-10746)Ctg>Atg p.L3582M DNAH7_ENST00000409063.1_Missense_Mutation_p.L65M NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3582 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAGAAACACAGGCCATAAAGC 0.353000 6 60 0.00116845 0.0013492 1 1 0 ACTR5 79913 broad.mit.edu 37 20 37400434 37400434 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:37400434G>T ENST00000243903.4 + 9 1836 c.1799G>T c.(1798-1800)gGa>gTa p.G600V NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 600 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GCTGCTGGTGGAGGTGGTGCT 0.627000 4 24 0.217242 0.222567 1 1 0 GPR112 139378 broad.mit.edu 37 X 135430882 135430882 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:135430882G>T ENST00000394143.1 + 6 5308 c.5017G>T c.(5017-5019)Ggc>Tgc p.G1673C GPR112_ENST00000287534.4_Missense_Mutation_p.G1610C|GPR112_ENST00000412101.1_Missense_Mutation_p.G1468C|GPR112_ENST00000370652.1_Missense_Mutation_p.G1673C|GPR112_ENST00000394141.1_Missense_Mutation_p.G1468C NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1673 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCCATTTGTAGGCACCACTGC 0.468000 32 204 4.74835e-14 9.18894e-14 1 1 0 SLC39A12 221074 broad.mit.edu 37 10 18289689 18289689 + Nonsense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:18289689C>A ENST00000377369.2 + 11 1967 c.1694C>A c.(1693-1695)tCa>tAa p.S565* SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.S564*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.S431*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.S528* NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 565 Poly-Ser. zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 GCCTTCTCATCATCATCCGAG 0.448000 11 47 3.86212e-05 4.96728e-05 1 1 0 COBLL1 22837 broad.mit.edu 37 2 165551079 165551079 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:165551079C>A ENST00000375458.2 - 11 3044 c.2823G>T c.(2821-2823)caG>caT p.Q941H COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1046H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q979H|COBLL1_ENST00000392717.2_Missense_Mutation_p.Q1017H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q979H NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 1017 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CAGCAGGAGCCTGACCGATGA 0.468000 7 49 0.00198382 0.00224725 1 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135263663 135263663 + Missense_Mutation SNP C C A rs143751098 by1000genomes TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:135263663C>A ENST00000265605.2 - 3 394 c.326G>T c.(325-327)cGg>cTg p.R109L ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R109L|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R109L NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 109 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CTGCACAGACCGGGGAATGTC 0.527000 7 41 0.00198382 0.00224725 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51191244 51191244 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:51191244C>A ENST00000293441.1 - 17 2262 c.2244G>T c.(2242-2244)acG>acT p.T748T SHANK1_ENST00000391814.1_Silent_p.T748T|SHANK1_ENST00000359082.3_Silent_p.T739T|SHANK1_ENST00000391813.1_Silent_p.T135T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 748 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCACCATCAGCGTGTTGCCCC 0.612000 15 69 2.32078e-09 4.00863e-09 1 1 0 ABCA7 10347 broad.mit.edu 37 19 1054593 1054593 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:1054593G>T ENST00000263094.6 + 28 3982 c.3751G>T c.(3751-3753)Ggc>Tgc p.G1251C ABCA7_ENST00000433129.1_Missense_Mutation_p.G1251C|ABCA7_ENST00000435683.2_Missense_Mutation_p.G1113C NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1251 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCTTTGTGGGCCTGGCCCT 0.627000 6 48 0.00198382 0.00224725 1 1 0 BRINP3 339479 broad.mit.edu 37 1 190203558 190203558 + Missense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:190203558A>T ENST00000367462.3 - 5 899 c.668T>A c.(667-669)cTa>cAa p.L223Q FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L121Q NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 223 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GACAGAATCTAGGTTGTCATA 0.383000 5 62 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114249016 114249016 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:114249016C>A ENST00000371936.1 - 5 617 c.368G>T c.(367-369)tGg>tTg p.W123L IL13RA2_ENST00000243213.1_Missense_Mutation_p.W123L Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 123 Fibronectin type-III 1. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 AGTTTCTGCCCAGGAACTTTG 0.363000 11 130 1.08611e-07 1.71318e-07 1 1 0 ZNF479 90827 broad.mit.edu 37 7 57193762 57193762 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:57193762C>A ENST00000331162.4 - 4 495 c.225G>T c.(223-225)caG>caT p.Q75H NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TCTTTATATTCTGGGACTCTT 0.408000 9 116 2.17888e-05 2.91914e-05 1 1 0 ANK3 288 broad.mit.edu 37 10 61829755 61829755 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:61829755C>G ENST00000280772.1 - 37 11075 c.10884G>C c.(10882-10884)agG>agC p.R3628S ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3628 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAATTGGAGCCTCTCTTCAA 0.478000 8 66 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64456793 64456793 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:64456793G>C ENST00000355086.3 + 7 1422 c.898G>C c.(898-900)Gac>Cac p.D300H RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D300H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D260H NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 300 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGAGGGCTTAGACATTATTGA 0.453000 12 72 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557497 214557497 + Silent SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:214557497C>G ENST00000366956.5 - 13 1895 c.1701G>C c.(1699-1701)ccG>ccC p.P567P PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 567 Poly-Pro. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGTAGGGGGGCGGTGGCCTGA 0.657000 6 66 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107609 168107609 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:168107609C>A ENST00000409195.1 + 9 9796 c.9707C>A c.(9706-9708)cCt>cAt p.P3236H XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3014H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3236H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3061 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 GACTCTCCACCTACAATCACA 0.438000 9 83 0.00448238 0.00499636 1 1 0 NRK 203447 broad.mit.edu 37 X 105153139 105153139 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:105153139G>T ENST00000428173.2 + 13 1812 c.1509G>T c.(1507-1509)caG>caT p.Q503H NRK_ENST00000243300.9_Missense_Mutation_p.Q502H Q7Z2Y5 NRK_HUMAN Nik related kinase 502 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AAAAGCAGCAGGCCCAGACCC 0.567000 HNSCC(51;0.14) 8 64 5.18039e-06 7.26646e-06 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T rs58277049 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:145311839A>T ENST00000369338.1 + 10 1278 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 636 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473000 3 15 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321071 79321071 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:79321071G>A ENST00000428286.1 - 8 6242 c.5042C>T c.(5041-5043)cCa>cTa p.P1681L PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2040L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2040 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTCCTCACTTGGGGTAGAGCC 0.502000 12 63 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58234014 58234014 + Missense_Mutation SNP G G A rs121434552 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:58234014G>A ENST00000300900.4 + 3 305 c.206G>A c.(205-207)cGc>cAc p.R69H NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 69 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AAACTGGGACGCTTCTTCTTC 0.572000 8 52 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967389 81967389 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr4:81967389A>G ENST00000282701.2 + 2 1134 c.814A>G c.(814-816)Aaa>Gaa p.K272E NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 272 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 AACTGTTCCCAAATGGGATAG 0.512000 7 93 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651703 1651703 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:1651703C>A ENST00000399676.2 + 1 671 c.633C>A c.(631-633)tcC>tcA p.S211S NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 211 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTGGATCATCCTGCTGCCAAT 0.587000 9 168 7.48243e-07 1.11702e-06 1 1 0 ZNF615 284370 broad.mit.edu 37 19 52496195 52496195 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:52496195C>A ENST00000602063.1 - 6 2483 c.2134G>T c.(2134-2136)Gat>Tat p.D712Y ZNF615_ENST00000376716.5_Missense_Mutation_p.D712Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.D717Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.D723Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.D723Y Q8N8J6 ZN615_HUMAN zinc finger protein 615 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TTCCCACAATCACTACATCCA 0.448000 21 145 8.34094e-07 1.24075e-06 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163279950 163279950 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:163279950T>C ENST00000332142.5 - 9 2149 c.2050A>G c.(2050-2052)Aaa>Gaa p.K684E KCNH7_ENST00000328032.4_Missense_Mutation_p.K677E NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 684 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATGAACTCTTTTACTCGCAGC 0.443000 19 146 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296432 20296432 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:20296432C>A ENST00000315947.1 + 1 825 c.825C>A c.(823-825)caC>caA p.H275Q OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTCTCTTCCACACAGTGATTT 0.433000 15 174 6.81908e-15 1.3382e-14 1 1 0 SYPL2 284612 broad.mit.edu 37 1 110022120 110022120 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:110022120G>T ENST00000369872.3 + 6 985 c.769G>T c.(769-771)Ggt>Tgt p.G257C SYPL2_ENST00000401021.3_Missense_Mutation_p.G193C NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 257 integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) ccagggccaggGTCCCAGCCA 0.632000 6 71 3.59834e-05 4.67113e-05 1 1 0 NSMAF 8439 broad.mit.edu 37 8 59520391 59520391 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:59520391C>A ENST00000038176.3 - 11 908 c.696G>T c.(694-696)gtG>gtT p.V232V NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.V263V NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 232 GRAM. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TTATCTGGACCACAGGTTTCT 0.438000 22 64 2.27731e-05 3.04126e-05 1 1 0 AMPD1 270 broad.mit.edu 37 1 115217454 115217454 + Nonsense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:115217454A>T ENST00000369538.3 - 12 1853 c.1806T>A c.(1804-1806)tgT>tgA p.C602* AMPD1_ENST00000353928.6_Nonsense_Mutation_p.C573*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.C606* NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 573 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CAGCTTCTCCACAGTGAGGTC 0.453000 10 55 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85593585 85593585 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:85593585G>T ENST00000280245.4 + 4 722 c.210G>T c.(208-210)tgG>tgT p.W70C CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.W27C|CCDC83_ENST00000342404.3_Missense_Mutation_p.W70C NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 70 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AACAGATTTGGCACATACGGC 0.388000 23 69 1.22574e-08 2.07433e-08 1 1 0 TPX2 22974 broad.mit.edu 37 20 30370062 30370062 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:30370062C>T ENST00000340513.4 + 12 1701 c.1173C>T c.(1171-1173)ccC>ccT p.P391P TPX2_ENST00000300403.6_Silent_p.P355P Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 355 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ACCTGTTACCCTCCAAATCTT 0.483000 42 136 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126774201 126774201 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:126774201C>T ENST00000274473.6 + 18 2442 c.2175C>T c.(2173-2175)agC>agT p.S725S MEGF10_ENST00000503335.2_Silent_p.S725S NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 725 EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTTTCTGCAGCGCCTACGATG 0.537000 17 93 0 0 1 0 0 APOOL 139322 broad.mit.edu 37 X 84329284 84329284 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:84329284G>T ENST00000373173.2 + 8 692 c.605G>T c.(604-606)gGa>gTa p.G202V NM_198450.5 NP_940852.3 Q6UXV4 APOOL_HUMAN apolipoprotein O-like 202 extracellular region central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 AAACAGCTAGGATCCTCTTCC 0.398000 5 35 1.23904e-05 1.68703e-05 1 1 0 PRRX1 5396 broad.mit.edu 37 1 170705230 170705230 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:170705230C>A ENST00000239461.6 + 4 954 c.641C>A c.(640-642)cCt>cAt p.P214H PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 214 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.P214R(1) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AACAATAGCCCTGCACAGGGC 0.493000 14 198 3.27435e-08 5.36737e-08 1 1 0 KSR2 283455 broad.mit.edu 37 12 118198870 118198870 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:118198870C>T ENST00000425217.1 - 4 899 c.845G>A c.(844-846)aGc>aAc p.S282N KSR2_ENST00000339824.5_Missense_Mutation_p.S311N NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 311 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGGATTTGCTCCGATGCAG 0.652000 11 92 0 0 1 0 0 PRSS23 11098 broad.mit.edu 37 11 86518702 86518702 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:86518702G>T ENST00000280258.5 + 2 442 c.17G>T c.(16-18)gGg>gTg p.G6V PRSS23_ENST00000441050.1_Missense_Mutation_p.G6V|PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 6 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGGATTCCAGGGCTCCTCTTC 0.552000 8 115 1.06961e-07 1.70648e-07 1 1 0 HYDIN 54768 broad.mit.edu 37 16 71012867 71012867 + Missense_Mutation SNP C C T rs79049769 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:71012867C>T ENST00000393567.2 - 30 4738 c.4588G>A c.(4588-4590)Gat>Aat p.D1530N NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1530 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCAAAGTGATCGAGCATTTCA 0.488000 7 52 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 58980033 58980033 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:58980033C>G ENST00000589222.1 + 11 859 c.791C>G c.(790-792)tCt>tGt p.S264C BCAS3_ENST00000588462.1_Missense_Mutation_p.S264C|BCAS3_ENST00000588874.1_Missense_Mutation_p.S35C|BCAS3_ENST00000408905.3_Missense_Mutation_p.S264C|BCAS3_ENST00000390652.5_Missense_Mutation_p.S264C|BCAS3_ENST00000585744.1_Missense_Mutation_p.S35C|BCAS3_ENST00000407086.3_Missense_Mutation_p.S264C Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 264 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) AACATTCAGTCTTATACTGCC 0.418000 35 95 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63176028 63176028 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:63176028A>G ENST00000263991.5 + 14 2634 c.2152A>G c.(2152-2154)Aca>Gca p.T718A EHBP1_ENST00000405289.1_Missense_Mutation_p.T683A|EHBP1_ENST00000405015.3_Missense_Mutation_p.T683A|EHBP1_ENST00000431489.1_Missense_Mutation_p.T683A|EHBP1_ENST00000354487.3_Missense_Mutation_p.T683A NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 718 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTGTGAGGAGACAGATGAACA 0.363000 7 34 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110255340 110255340 + Translation_Start_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:110255340C>A ENST00000369813.1 + 0 194 GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GTGTCCGGGCCCTGCCCACTC 0.627000 5 57 0.014758 0.0158991 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11675981 11675981 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:11675981G>T ENST00000423059.3 - 2 1049 c.798C>A c.(796-798)ccC>ccA p.P266P NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 266 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTCGGGAGTGGGGCATTGAGC 0.572000 HNSCC(18;0.044) 29 68 2.14196e-07 3.32839e-07 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62288078 62288078 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:62288078C>A ENST00000378024.4 - 5 14085 c.13811G>T c.(13810-13812)gGt>gTt p.G4604V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4604 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CACCTTTGGACCTTTCAGATT 0.507000 10 138 7.48243e-07 1.11702e-06 1 1 0 CHEK1 1111 broad.mit.edu 37 11 125514032 125514032 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:125514032G>T ENST00000534070.1 + 10 1225 c.970G>T c.(970-972)Ggt>Tgt p.G324C CHEK1_ENST00000524737.1_Missense_Mutation_p.G324C|CHEK1_ENST00000544373.1_Missense_Mutation_p.G324C|CHEK1_ENST00000438015.1_Missense_Mutation_p.G324C|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.G324C|CHEK1_ENST00000278916.3_Missense_Mutation_p.G324C|CHEK1_ENST00000427383.2_Missense_Mutation_p.G340C NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 324 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) ACCCCGCACAGGTCTTTCCTT 0.403000 Other conserved DNA damage response genes 7 133 5.18039e-06 7.26646e-06 1 1 0 PPP2R5D 5528 broad.mit.edu 37 6 42974756 42974756 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:42974756G>T ENST00000485511.1 + 4 609 c.430G>T c.(430-432)Gtg>Ttg p.V144L PPP2R5D_ENST00000472118.1_Missense_Mutation_p.V136L|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.V112L|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.V38L NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 144 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ATTCAAGGAGGTGAAGCGGGC 0.547000 7 137 8.12818e-05 0.000102646 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105418020 105418020 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:105418020C>A ENST00000333244.5 - 7 3887 c.3768G>T c.(3766-3768)atG>atT p.M1256I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1256 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCACTTTGGGCATCTTCAAAC 0.622000 22 163 1.2644e-06 1.87419e-06 1 1 0 SLC26A10 65012 broad.mit.edu 37 12 58014086 58014086 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:58014086C>T ENST00000379218.2 + 1 394 c.83C>T c.(82-84)cCc>cTc p.P28L SLC26A10_ENST00000320442.4_Missense_Mutation_p.P28L Q8NG04 S2610_HUMAN solute carrier family 26, member 10 28 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GACAAGGCCCCCTCCCCACAG 0.532000 18 442 0 0 1 0 0 C1orf95 375057 broad.mit.edu 37 1 226736724 226736724 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:226736724G>T ENST00000366788.3 + 1 224 c.119G>T c.(118-120)gGc>gTc p.G40V C1orf95_ENST00000366789.4_Missense_Mutation_p.G40V NM_001003665.3 NP_001003665.1 Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 40 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) GAGAAGAAGGGCCCCCTGCGC 0.741000 3 8 0.004672 0.00516639 1 1 0 PVRL1 5818 broad.mit.edu 37 11 119545905 119545905 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:119545905C>G ENST00000264025.3 - 5 1497 c.967G>C c.(967-969)Ggt>Cgt p.G323R PVRL1_ENST00000340882.2_Missense_Mutation_p.G323R|PVRL1_ENST00000341398.2_Missense_Mutation_p.G323R NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 323 Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GAGCGTGTACCGATGGGGTTG 0.607000 10 31 0 0 1 0 0 FAR2 55711 broad.mit.edu 37 12 29464845 29464845 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:29464845C>A ENST00000182377.4 + 8 1185 c.917C>A c.(916-918)aCa>aAa p.T306K FAR2_ENST00000547116.1_Missense_Mutation_p.T209K|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.T306K NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 306 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 TACCACATTACATCTGGTAAC 0.313000 8 43 0.307466 0.313465 1 1 0 MEFV 4210 broad.mit.edu 37 16 3293247 3293247 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:3293247G>A ENST00000219596.1 - 10 2279 c.2240C>T c.(2239-2241)tCt>tTt p.S747F MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.S536F|MEFV_ENST00000339854.4_Missense_Mutation_p.S567F NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 747 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCCAGAGAAAGAGCAGCTGGC 0.542000 18 69 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996561 143996561 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:143996561T>A ENST00000323110.2 - 3 498 c.496A>T c.(496-498)Agg>Tgg p.R166W NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 166 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GAGAAGTCCCTGGCCACTGCA 0.617000 Familial Hyperaldosteronism type I 4 33 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16348093 16348093 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:16348093G>A ENST00000408042.1 - 23 4034 c.3877C>T c.(3877-3879)Cct>Tct p.P1293S KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CCCGGAGGAGGTATGTTTCGA 0.443000 19 170 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44983789 44983789 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:44983789G>C ENST00000372227.1 - 6 1040 c.500C>G c.(499-501)gCc>gGc p.A167G SLC35C2_ENST00000372230.5_Missense_Mutation_p.A167G|SLC35C2_ENST00000543605.1_Missense_Mutation_p.A196G|SLC35C2_ENST00000243896.2_Missense_Mutation_p.A167G|SLC35C2_ENST00000372229.1_Missense_Mutation_p.A34G|SLC35C2_ENST00000317734.8_Missense_Mutation_p.A146G Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 167 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) CAGCACCAAGGCGAAGCCCTC 0.617000 13 46 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057225 120057225 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:120057225T>C ENST00000235547.6 + 4 1224 c.1085T>C c.(1084-1086)cTt>cCt p.L362P HSD3B1_ENST00000369413.3_Missense_Mutation_p.L360P|HSD3B1_ENST00000528909.1_Missense_Mutation_p.L360P NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 360 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GTTGGTTCCCTTGTGGACCGG 0.498000 16 53 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23708876 23708876 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:23708876C>T ENST00000290271.2 - 3 713 c.430G>A c.(430-432)Gcc>Acc p.A144T STC1_ENST00000524323.1_Missense_Mutation_p.A75T NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 144 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCAGTGATGGCTTCAGGGTTC 0.537000 19 101 0 0 1 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764732 109764732 + RNA SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:109764732C>A ENST00000602699.1 + 0 1193 NR_002718.2 CCTGGCTGCCCAAGAAGTGTT 0.572000 19 103 1.28384e-07 2.01746e-07 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262353 45262353 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:45262353C>T ENST00000303230.4 - 8 2400 c.2343G>A c.(2341-2343)cgG>cgA p.R781R NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 781 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.R781R(1) 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 GCCTGACTTCCCGGGTCAGGT 0.632000 6 57 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68172447 68172447 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:68172447C>G ENST00000243457.3 + 2 1650 c.1267C>G c.(1267-1269)Cga>Gga p.R423G KCNJ2_ENST00000535240.1_Missense_Mutation_p.R423G NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 423 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) GCCCTTACGGCGAGAGTCGGA 0.493000 16 102 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107439762 107439762 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:107439762G>A ENST00000394872.2 - 15 1107 c.876C>T c.(874-876)atC>atT p.I292I COL4A6_ENST00000372216.4_Silent_p.I295I|COL4A6_ENST00000545689.1_Silent_p.I294I|COL4A6_ENST00000538570.1_Silent_p.I294I|COL4A6_ENST00000334504.7_Silent_p.I294I Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 295 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GCAAACCAGGGATtccctttt 0.423000 Alport syndrome with Diffuse Leiomyomatosis 8 27 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980822 40980822 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:40980822C>A ENST00000373198.3 - 10 1899 c.1664G>T c.(1663-1665)gGt>gTt p.G555V PTPRT_ENST00000373187.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373190.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373201.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373184.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373193.3_Missense_Mutation_p.G555V|PTPRT_ENST00000356100.2_Missense_Mutation_p.G555V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 555 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGGTACAGACCCACAAAGAG 0.562000 10 82 2.17888e-05 2.91914e-05 1 1 0 OR51B2 79345 broad.mit.edu 37 11 5345428 5345428 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:5345428C>A ENST00000328813.2 - 1 154 c.100G>T c.(100-102)Gtg>Ttg p.V34L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATGCACACATAAACAGCA 0.517000 OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 66 3.09899e-07 4.76241e-07 1 1 0 RFX7 64864 broad.mit.edu 37 15 56386666 56386666 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:56386666T>A ENST00000423270.1 - 9 3259 c.3260A>T c.(3259-3261)cAg>cTg p.Q1087L RFX7_ENST00000559447.2_Missense_Mutation_p.Q990L|RFX7_ENST00000317318.6_Missense_Mutation_p.Q1087L|RFX7_ENST00000422057.1_Missense_Mutation_p.Q990L NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 990 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CACTAGTTCCTGATAGCTTGG 0.448000 25 95 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135693 55135693 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:55135693G>T ENST00000314706.3 + 1 334 c.334G>T c.(334-336)Gac>Tac p.D112Y NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 AATGATTGTTGACTTGCTCTC 0.423000 24 160 5.35356e-11 9.60424e-11 1 1 0 BTNL2 56244 broad.mit.edu 37 6 32370842 32370842 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:32370842G>T ENST00000454136.3 - 3 583 c.579C>A c.(577-579)atC>atA p.I193I BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000374993.1_Silent_p.I193I Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 193 Ig-like V-type 2. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CTTTATCTTGGATGCGATGCT 0.587000 7 26 1.12685e-05 1.55453e-05 1 1 0 CDH10 1008 broad.mit.edu 37 5 24537748 24537748 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:24537748G>T ENST00000264463.4 - 3 774 c.267C>A c.(265-267)ctC>ctA p.L89L NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 89 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGATATATTTGAGTGATCCAT 0.368000 HNSCC(23;0.051) 6 49 3.59834e-05 4.67113e-05 1 1 0 CDH20 28316 broad.mit.edu 37 18 59221667 59221667 + Silent SNP G G T rs35315610 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr18:59221667G>T ENST00000262717.4 + 12 2543 c.2145G>T c.(2143-2145)acG>acT p.T715T CDH20_ENST00000538374.1_Silent_p.T715T|CDH20_ENST00000536675.2_Silent_p.T715T Q9HBT6 CAD20_HUMAN cadherin 20, type 2 715 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TGCCTCAGACGTGCGCAGTGA 0.667000 7 23 2.0095e-06 2.92672e-06 1 1 0 USH2A 7399 broad.mit.edu 37 1 216595629 216595629 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:216595629A>G ENST00000366943.2 - 2 436 c.50T>C c.(49-51)aTt>aCt p.I17T USH2A_ENST00000366942.3_Missense_Mutation_p.I17T|USH2A_ENST00000307340.3_Missense_Mutation_p.I17T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 17 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAACATTTCAATGACCTGAAA 0.393000 HNSCC(13;0.011) 11 36 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127933409 127933409 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:127933409C>A ENST00000451402.1 - 3 457 c.237G>T c.(235-237)caG>caT p.Q79H PPP6C_ENST00000415905.1_Missense_Mutation_p.Q42H|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Missense_Mutation_p.Q42H NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 42 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTGATACTGGCTGAACATTTG 0.358000 20 95 4.26978e-12 7.9323e-12 1 1 0 BOD1L1 259282 broad.mit.edu 37 4 13606501 13606501 + Missense_Mutation SNP C C A rs140143416 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr4:13606501C>A ENST00000040738.5 - 10 2158 c.2023G>T c.(2023-2025)Gat>Tat p.D675Y NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 675 Lys-rich. DNA binding CTTTTTACATCTCTTGTGTCA 0.393000 28 205 3.80469e-20 7.91225e-20 1 1 0 ZNF573 126231 broad.mit.edu 37 19 38229860 38229860 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:38229860C>T ENST00000339503.4 - 8 1858 c.1357G>A c.(1357-1359)Gga>Aga p.G453R ZNF573_ENST00000392138.1_Missense_Mutation_p.G424R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G423R|ZNF573_ENST00000536220.1_Missense_Mutation_p.G423R|ZNF573_ENST00000590414.2_Missense_Mutation_p.G511R NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TTAAGATATCCATGCAAGCTA 0.353000 8 76 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50316929 50316929 + Missense_Mutation SNP T T G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:50316929T>G ENST00000404488.3 + 8 1018 c.883T>G c.(883-885)Ttc>Gtc p.F295V CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000328268.4_Missense_Mutation_p.F246V|CRELD2_ENST00000407217.3_Missense_Mutation_p.F246V NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 246 EGF-like 2; calcium-binding (Potential). S -> A (in dbSNP:rs11545762). endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) CGCTGCGCAGTTCTGTAAGAA 0.677000 4 19 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768093 31768093 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:31768093G>T ENST00000240587.4 - 2 2933 c.2606C>A c.(2605-2607)tCc>tAc p.S869Y NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 869 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGACTTCTCGGAGATGCTGGA 0.567000 5 86 0.000602214 0.000711089 1 1 0 ABCD1 215 broad.mit.edu 37 X 152994853 152994853 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:152994853G>T ENST00000218104.3 + 2 1466 c.1067G>T c.(1066-1068)gGc>gTc p.G356V ABCD1_ENST00000370129.4_Missense_Mutation_p.G171V NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 356 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACTGCCACTGGCTACTCAGAG 0.612000 7 64 2.0095e-06 2.92672e-06 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31918623 31918623 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:31918623C>A ENST00000396184.3 - 5 615 c.411G>T c.(409-411)ggG>ggT p.G137G PDE1C_ENST00000396182.2_Silent_p.G137G|PDE1C_ENST00000396191.1_Silent_p.G137G|PDE1C_ENST00000396193.1_Silent_p.G197G|PDE1C_ENST00000321453.7_Silent_p.G137G NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 137 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCACAAATATCCCAGCCTGCA 0.498000 18 94 6.49762e-13 1.21794e-12 1 1 0 MTHFD1L 25902 broad.mit.edu 37 6 151266630 151266630 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:151266630G>T ENST00000367321.3 + 15 1850 c.1576G>T c.(1576-1578)Gtg>Ttg p.V526L NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 526 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GGTTCCTTTAGTGAATGGTGT 0.358000 4 66 0.00024832 0.000305288 1 1 0 KIAA0408 9729 broad.mit.edu 37 6 127767643 127767643 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:127767643C>T ENST00000483725.3 - 5 2157 c.1821G>A c.(1819-1821)atG>atA p.M607I SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 607 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CCATTTGGAGCATTTCTAAAT 0.428000 21 177 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630319 74630319 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:74630319C>A ENST00000358632.4 - 9 1781 c.1086G>T c.(1084-1086)caG>caT p.Q362H CYP11A1_ENST00000419019.2_Missense_Mutation_p.Q362H|CYP11A1_ENST00000268053.6_Missense_Mutation_p.Q520H NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 520 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTGATCACTGCTGGGTTGCTT 0.572000 5 47 0.000602214 0.000711089 1 1 0 RELA 5970 broad.mit.edu 37 11 65422434 65422434 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:65422434G>A ENST00000406246.3 - 11 1332 c.1071C>T c.(1069-1071)acC>acT p.T357T RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Silent_p.T354T NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 357 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 CATAGTTGATGGTGCTCAGGG 0.612000 3 4 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:14316390T>A ENST00000545643.1 - 3 546 c.233A>T c.(232-234)cAa>cTa p.Q78L RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding p.Q72L(2) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393000 6 129 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23521220 23521220 + Missense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:23521220A>T ENST00000296682.3 + 6 622 c.440A>T c.(439-441)cAg>cTg p.Q147L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 147 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGCTCAGAGCAGGCTCAGAAA 0.433000 HNSCC(3;0.000094) 7 78 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774638 140774638 + Missense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:140774638A>T ENST00000398604.2 + 1 2258 c.2258A>T c.(2257-2259)tAt>tTt p.Y753F PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGACCTATTCCCAGGAA 0.577000 11 72 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4959885 4959885 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:4959885G>T ENST00000404774.3 - 3 401 c.207C>A c.(205-207)gcC>gcA p.A69A MMD2_ENST00000406755.1_Silent_p.A69A|MMD2_ENST00000401401.3_Silent_p.A69A NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 69 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CGTAGATCCAGGCAGAGATGG 0.622000 3 6 0.115264 0.120451 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940650 22940650 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:22940650G>T ENST00000397104.3 - 5 1787 c.1788C>A c.(1786-1788)aaC>aaA p.N596K ZNF99_ENST00000596209.1_Missense_Mutation_p.N687K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTGAGAAATGGTTAAAAGCCT 0.378000 9 50 0.00448238 0.00499636 1 1 0 CHRND 1144 broad.mit.edu 37 2 233394809 233394809 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:233394809C>T ENST00000536614.1 + 6 698 c.670C>T c.(670-672)Ctc>Ttc p.L224F CHRND_ENST00000258385.3_Silent_p.I260I|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Silent_p.I245I Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 0 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GCGTGCTCATCTCCTTCATGG 0.622000 17 66 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76471226 76471226 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:76471226T>A ENST00000396423.2 + 8 1171 c.1047T>A c.(1045-1047)ttT>ttA p.F349L HNF4G_ENST00000354370.1_Missense_Mutation_p.F312L NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 312 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTAAACTTTTTGGGATGGTTA 0.388000 8 122 0 0 1 0 0 COX4I1 1327 broad.mit.edu 37 16 85840373 85840373 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:85840373A>G ENST00000562336.1 + 5 596 c.403A>G c.(403-405)Aaa>Gaa p.K135E COX4I1_ENST00000561569.1_Missense_Mutation_p.K135E|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Missense_Mutation_p.K135E|COX4I1_ENST00000568794.1_3'UTR P13073 COX41_HUMAN cytochrome c oxidase subunit IV isoform 1 135 respiratory electron transport chain mitochondrial inner membrane|nucleus cytochrome-c oxidase activity|protein binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 Renal(780;0.228) AAGCTTTGACAAAGAGTGGGT 0.537000 15 48 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158284179 158284179 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr4:158284179G>A ENST00000296526.7 + 15 2960 c.2635G>A c.(2635-2637)Gaa>Aaa p.E879K GRIA2_ENST00000449365.1_Missense_Mutation_p.E832K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E832K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E832K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E879K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 879 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.E879K(3) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATATGGCATCGAAAGTGTTAA 0.373000 9 123 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82436173 82436173 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:82436173G>T ENST00000370728.1 + 18 3542 c.2897G>T c.(2896-2898)gGa>gTa p.G966V LPHN2_ENST00000370730.1_Missense_Mutation_p.G966V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G966V|LPHN2_ENST00000271029.4_Missense_Mutation_p.G966V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.G966V|LPHN2_ENST00000370721.1_Missense_Mutation_p.G891V|LPHN2_ENST00000319517.6_Missense_Mutation_p.G953V|LPHN2_ENST00000370713.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G966V|LPHN2_ENST00000359929.3_Missense_Mutation_p.G953V|LPHN2_ENST00000335786.5_Missense_Mutation_p.G966V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G953V O95490 LPHN2_HUMAN latrophilin 2 966 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.G953V(1)|p.G966V(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACAGTGGTTGGAGTTTCAGCT 0.358000 16 66 0.000308642 0.000373949 1 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24891012 24891012 + Silent SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:24891012T>A ENST00000396432.2 - 13 3228 c.2742A>T c.(2740-2742)tcA>tcT p.S914S ARHGAP21_ENST00000320481.6_Silent_p.S701S|ARHGAP21_ENST00000493154.1_5'UTR NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 913 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AGTCTTCTGATGACTTTTGGC 0.428000 5 41 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287668 16287668 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:16287668C>A ENST00000343518.6 - 1 269 c.218G>T c.(217-219)aGg>aTg p.R73M NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 73 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 GCCGCTCCCCCTGCACCAGGG 0.572000 27 683 2.08457e-15 4.11014e-15 1 1 0 OR56A4 120793 broad.mit.edu 37 11 6023772 6023772 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:6023772C>A ENST00000330728.4 - 1 652 c.607G>T c.(607-609)Gtt>Ttt p.V203F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGGCTATAACAAAGACCACG 0.483000 10 46 0.000442599 0.000531628 1 1 0 SULT4A1 25830 broad.mit.edu 37 22 44234846 44234846 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:44234846C>A ENST00000330884.4 - 4 529 c.409G>T c.(409-411)Gat>Tat p.D137Y SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.D137Y NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 137 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) ACCACCAGATCCTTGGGGTTG 0.562000 16 44 1.99824e-07 3.11665e-07 1 1 0 MATN4 8785 broad.mit.edu 37 20 43926908 43926908 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:43926908C>G ENST00000537548.1 - 8 1572 c.1328G>C c.(1327-1329)cGg>cCg p.R443P MATN4_ENST00000372754.1_Missense_Mutation_p.R484P|MATN4_ENST00000360607.5_Missense_Mutation_p.R402P|MATN4_ENST00000372753.1_Missense_Mutation_p.R294P|MATN4_ENST00000353917.5_Missense_Mutation_p.R361P|MATN4_ENST00000372751.4_Missense_Mutation_p.R294P|MATN4_ENST00000342716.4_Missense_Mutation_p.R443P|MATN4_ENST00000372756.1_Missense_Mutation_p.R443P O95460 MATN4_HUMAN matrilin 4 484 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GGCACGGGGCCGTGCACCCTG 0.667000 18 62 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718462 142718462 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:142718462G>T ENST00000381779.4 - 2 688 c.463C>A c.(463-465)Cac>Aac p.H155N SLITRK4_ENST00000356928.1_Missense_Mutation_p.H155N|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H155N NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 155 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGTTTGTGGAGCTTATTG 0.398000 21 106 2.37509e-13 4.53328e-13 1 1 0 MGAT5B 146664 broad.mit.edu 37 17 74934157 74934157 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:74934157C>G ENST00000569840.2 + 13 2090 c.1516C>G c.(1516-1518)Cca>Gca p.P506A MGAT5B_ENST00000301618.4_Missense_Mutation_p.P504A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P515A NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 506 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCCGAGGTGCCAGCCTTTGT 0.577000 16 48 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527661 23527661 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:23527661C>A ENST00000296682.3 + 11 2646 c.2464C>A c.(2464-2466)Cac>Aac p.H822N NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 822 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCTCCTCAGACACCAGAGGAC 0.572000 HNSCC(3;0.000094) 30 68 1.30897e-18 2.68211e-18 1 1 0 KCNJ16 3773 broad.mit.edu 37 17 68128525 68128525 + Silent SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:68128525T>C ENST00000585558.1 + 4 790 c.402T>C c.(400-402)caT>caC p.H134H KCNJ16_ENST00000589377.1_Silent_p.H99H|KCNJ16_ENST00000392670.1_Silent_p.H99H|KCNJ16_ENST00000586462.1_Silent_p.H138H|KCNJ16_ENST00000392671.1_Silent_p.H99H|KCNJ16_ENST00000283936.1_Silent_p.H99H Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 99 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CCTTTCATCATGGCGATCTAT 0.423000 16 72 0 0 1 0 0 CLLU1OS 574016 broad.mit.edu 37 12 92814926 92814926 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:92814926G>T ENST00000378487.2 - 3 167 c.166C>A c.(166-168)Cca>Aca p.P56T CLLU1OS_ENST00000538965.1_Missense_Mutation_p.P56T NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 56 p.P56S(1) large_intestine(1)|lung(7) 8 TCATAGTTTGGAGGTAAACTT 0.418000 31 118 2.4375e-19 5.04393e-19 1 1 0 AQP2 359 broad.mit.edu 37 12 50349277 50349277 + Silent SNP G G A rs143104356 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:50349277G>A ENST00000199280.3 + 4 787 c.702G>A c.(700-702)ctG>ctA p.L234L RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) 234 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 CGGAGCGCCTGGCAGTGCTGA 0.687000 3 28 0 0 1 0 0 USP27X 389856 broad.mit.edu 37 X 49645643 49645643 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:49645643C>A ENST00000508866.2 + 1 1174 c.733C>A c.(733-735)Cca>Aca p.P245T NM_001145073.1 NP_001138545.1 A6NNY8 UBP27_HUMAN ubiquitin specific peptidase 27, X-linked 245 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7) 7 GCCCATGAGCCCAGGGAGGGA 0.582000 4 6 0.00909568 0.00987531 1 1 0 GSDMA 284110 broad.mit.edu 37 17 38122659 38122659 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:38122659G>T ENST00000301659.4 + 3 479 c.361G>T c.(361-363)Gct>Tct p.A121S NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 121 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 ACTCAGTGTGGCTCCCAAGGC 0.622000 4 53 0.000274275 0.000333276 1 1 0 CTNND2 1501 broad.mit.edu 37 5 11411691 11411691 + Translation_Start_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:11411691C>A ENST00000458100.2 - 0 585 CTNND2_ENST00000511377.1_Missense_Mutation_p.Q41H|CTNND2_ENST00000304623.8_Missense_Mutation_p.Q132H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q41H|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q132H Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCCTGATTCCTGTAGTGACC 0.378000 8 65 1.12685e-05 1.55453e-05 1 1 0 KIR2DL4 3805 broad.mit.edu 37 19 55324701 55324701 + Silent SNP G G A rs1135578 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:55324701G>A ENST00000396284.2 + 6 822 c.822G>A c.(820-822)caG>caA p.Q274Q KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Intron|KIR3DL1_ENST00000538269.1_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TCACGAAGCAGAGGCCAGAGA 0.542000 4 1 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57202800 57202800 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:57202800T>C ENST00000343433.6 - 15 1833 c.1753A>G c.(1753-1755)Att>Gtt p.I585V C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 585 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCATAAATAATAACTTCCTGA 0.333000 3 32 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6138619 6138619 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:6138619G>T ENST00000261405.5 - 22 3110 c.2856C>A c.(2854-2856)caC>caA p.H952Q NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 952 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCACCTCAAAGTGAGTCTCAT 0.572000 8 68 5.18039e-06 7.26646e-06 1 1 0 CPO 130749 broad.mit.edu 37 2 207814383 207814383 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:207814383G>T ENST00000272852.3 + 2 157 c.111G>T c.(109-111)gtG>gtT p.V37V NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 37 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) ACAAGTCAGTGAGTCCATGGA 0.488000 13 44 3.41278e-10 6.04467e-10 1 1 0 WDR62 284403 broad.mit.edu 37 19 36580087 36580087 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:36580087G>T ENST00000401500.2 + 15 1872 c.1836_splice c.e15-1 p.G613_splice WDR62_ENST00000270301.7_Splice_Site_p.G613_splice NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 613 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCTGCCAGGGTTCGGATGG 0.597000 6 27 5.9392e-07 8.9624e-07 1 1 0 CARD8 22900 broad.mit.edu 37 19 48734112 48734112 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:48734112C>T ENST00000391898.3 - 6 736 c.694G>A c.(694-696)Ggc>Agc p.G232S CARD8_ENST00000520015.1_Missense_Mutation_p.G232S|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.G182S|CARD8_ENST00000359009.4_Missense_Mutation_p.G127S|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.G182S|CARD8_ENST00000521613.1_Missense_Mutation_p.G182S|CARD8_ENST00000520753.1_Missense_Mutation_p.G232S|CARD8_ENST00000519940.1_Missense_Mutation_p.G232S NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 127 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) AACAAGGGGCCGCCCACCAGC 0.597000 9 47 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902762 74902762 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:74902762G>T ENST00000357877.2 + 11 1631 c.e11+1 SEMA4F_ENST00000339773.5_Splice_Site|SEMA4F_ENST00000473350.1_Splice_Site NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 ATTGTACCACGTGAGTTGTAG 0.527000 5 64 0.217242 0.222567 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24922480 24922480 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:24922480G>A ENST00000329468.2 + 1 1940 c.1466G>A c.(1465-1467)gGa>gAa p.G489E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCAGTCGTAGGAGCAGCGCCT 0.512000 25 213 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218669320 218669320 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:218669320G>C ENST00000171887.4 - 33 5522 c.5070C>G c.(5068-5070)ttC>ttG p.F1690L TNS1_ENST00000419504.1_Missense_Mutation_p.F1676L|TNS1_ENST00000430930.1_Missense_Mutation_p.F1669L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1690 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCACGAAGCCGAAGAGCCTGC 0.652000 8 26 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109485 21109485 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:21109485C>T ENST00000320704.3 - 1 365 c.366G>A c.(364-366)gcG>gcA p.A122A NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GGTAGCGATCCGCAGACATGA 0.547000 6 61 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777551 123777551 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:123777551C>A ENST00000321355.2 + 1 443 c.413C>A c.(412-414)cCt>cAt p.P138H NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ATCATGTCCCCTAGGGTCTGT 0.512000 9 188 1.08611e-07 1.71318e-07 1 1 0 FZD5 7855 broad.mit.edu 37 2 208632199 208632199 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:208632199C>A ENST00000295417.3 - 2 1818 c.1265G>T c.(1264-1266)gGc>gTc p.G422V NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 422 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|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein 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) CGACACGAAGCCCGCCAGCAG 0.632000 9 26 0.000274275 0.000333276 1 1 0 RYR2 6262 broad.mit.edu 37 1 237754187 237754187 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:237754187G>T ENST00000366574.2 + 31 4372 c.4055G>T c.(4054-4056)gGc>gTc p.G1352V RYR2_ENST00000360064.6_Missense_Mutation_p.G1350V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1336V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1352 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACAGCTCATGGCCATCTAGTG 0.478000 18 45 7.05477e-17 1.41774e-16 1 1 0 ADORA1 134 broad.mit.edu 37 1 203098202 203098202 + Missense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:203098202A>T ENST00000367236.4 + 2 1154 c.233A>T c.(232-234)cAc>cTc p.H78L ADORA1_ENST00000337894.4_Missense_Mutation_p.H78L|ADORA1_ENST00000309502.3_Missense_Mutation_p.H78L|ADORA1_ENST00000367235.1_Missense_Mutation_p.H78L NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 78 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) ACCTACTTCCACACCTGCCTC 0.612000 42 130 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52824860 52824860 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:52824860A>G ENST00000490272.1 + 3 165 c.101A>G c.(100-102)cAg>cGg p.Q34R ZNF480_ENST00000595962.1_Silent_p.A119A|ZNF480_ENST00000335090.6_Silent_p.A42A|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.A76A Q8WV37 ZN480_HUMAN zinc finger protein 480 90 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GAAGCAATGCAGAAGACAAAC 0.368000 5 47 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490928 128490928 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:128490928G>T ENST00000325888.8 + 33 5731 c.5470G>T c.(5470-5472)Gtg>Ttg p.V1824L FLNC_ENST00000346177.6_Missense_Mutation_p.V1791L|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1824 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CACCATCACGGTGAGGTATGC 0.612000 14 102 1.5842e-08 2.65942e-08 1 1 0 OR4C46 119749 broad.mit.edu 37 11 51515609 51515609 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:51515609G>T ENST00000328188.1 + 1 328 c.328G>T c.(328-330)Ggc>Tgc p.G110C NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AGGTGCAGAGGGCATCCTACT 0.468000 13 127 0.00136819 0.0015755 1 1 0 MC2R 4158 broad.mit.edu 37 18 13884734 13884734 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr18:13884734C>T ENST00000327606.3 - 2 964 c.784G>A c.(784-786)Ggc>Agc p.G262S NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 262 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) ATCAACATGCCGTTCACCTGG 0.517000 14 68 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088706 94088706 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:94088706C>T ENST00000553484.1 + 31 5347 c.5193C>T c.(5191-5193)aaC>aaT p.N1731N UNC79_ENST00000555664.1_Silent_p.N1709N|UNC79_ENST00000256339.4_Silent_p.N1532N|UNC79_ENST00000393151.2_Silent_p.N1709N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1709 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAGCAGGGAACACTGACTCTG 0.527000 15 81 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112070550 112070550 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:112070550G>T ENST00000357685.5 + 6 1000 c.865_splice c.e6+1 p.G289_splice SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Splice_Site_p.G255_splice|BCO2_ENST00000361053.4_Splice_Site_p.G216_splice|BCO2_ENST00000393032.2_Splice_Site_p.G255_splice|BCO2_ENST00000526088.1_Splice_Site_p.G255_splice|BCO2_ENST00000531169.1_Splice_Site_p.G255_splice|BCO2_ENST00000532593.1_Splice_Site_p.G184_splice Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 289 G -> E (in dbSNP:rs17113607). carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 CCATAGCTTTGGTGAGTCCAG 0.443000 27 73 7.38237e-10 1.29114e-09 1 1 0 TMTC1 83857 broad.mit.edu 37 12 29709922 29709922 + Missense_Mutation SNP C C T rs141015646 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:29709922C>T ENST00000256062.5 - 10 1693 c.1220G>A c.(1219-1221)cGc>cAc p.R407H TMTC1_ENST00000551659.1_Missense_Mutation_p.R577H|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.R469H|TMTC1_ENST00000552618.1_Missense_Mutation_p.R539H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R515H NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 515 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) ACTTGCATGGCGTGGATACAA 0.448000 9 54 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24564863 24564863 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:24564863G>T ENST00000319715.4 + 4 765 c.333G>T c.(331-333)ctG>ctT p.L111L RBBP6_ENST00000348022.2_Silent_p.L111L|RBBP6_ENST00000381039.3_Silent_p.L111L NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 111 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CTATTTCTCTGGCCCAGCTTA 0.308000 5 74 3.59834e-05 4.67113e-05 1 1 0 PRKG1 5592 broad.mit.edu 37 10 53227550 53227550 + Silent SNP G G T rs73336216 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:53227550G>T ENST00000373980.4 + 3 963 c.546G>T c.(544-546)ggG>ggT p.G182G PRKG1_ENST00000373985.1_Silent_p.G155G|PRKG1_ENST00000401604.2_Silent_p.G167G NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 167 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AAGTGTTTGGGGAATTGGCTA 0.373000 7 53 0.000157383 0.000196965 1 1 0 NALCN 259232 broad.mit.edu 37 13 102029383 102029383 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:102029383C>A ENST00000251127.6 - 5 481 c.400G>T c.(400-402)Gat>Tat p.D134Y NALCN_ENST00000376200.5_Missense_Mutation_p.D134Y|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.D134Y NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 134 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GACATCTGATCAACTATATCA 0.408000 9 33 0.000673444 0.000786312 1 1 0 SMARCA4 6597 broad.mit.edu 37 19 11141499 11141499 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:11141499G>C ENST00000358026.2 + 25 3760 c.3476G>C c.(3475-3477)gGg>gCg p.G1159A SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159A|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159A NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1159 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.L1161fs*3(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACCCGGGCTGGGGGGCTCGGC 0.617000 """F, N, Mis""" NSCLC 3 8 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61306523 61306523 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr18:61306523C>G ENST00000341074.5 - 7 779 c.664G>C c.(664-666)Gcc>Ccc p.A222P SERPINB4_ENST00000356424.6_Intron NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TCCAGCAAGGCAAAATTAAAG 0.393000 8 65 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39575887 39575887 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr18:39575887G>C ENST00000262039.4 + 8 906 c.820G>C c.(820-822)Gcc>Ccc p.A274P PIK3C3_ENST00000398870.3_Missense_Mutation_p.A211P NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 274 KLA -> NLP (in Ref. 1; CAA87094). cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 CCACAAGCTTGCCCGGAGTTT 0.333000 TSP Lung(28;0.18) 10 46 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46920997 46920997 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:46920997T>C ENST00000378623.1 - 5 730 c.488A>G c.(487-489)gAg>gGg p.E163G NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 163 LDL-receptor class A 4. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTACCAATGCTCAGCAATGCA 0.597000 26 74 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173213 207173213 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:207173213G>T ENST00000374423.3 + 5 4347 c.3961G>T c.(3961-3963)Ggc>Tgc p.G1321C NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1321 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GGATGATAAGGGCTATGTGCC 0.388000 9 33 0.00448238 0.00499636 1 1 0 PPP2R2B 5521 broad.mit.edu 37 5 146080608 146080608 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:146080608C>A ENST00000394413.3 - 2 738 c.168_splice c.e2+1 p.E56_splice PPP2R2B_ENST00000394410.2_Splice_Site_p.E45_splice|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Splice_Site_p.E56_splice|PPP2R2B_ENST00000508545.2_Splice_Site_p.E45_splice|PPP2R2B_ENST00000453001.1_Splice_Site_p.E56_splice|PPP2R2B_ENST00000336640.6_Splice_Site_p.E59_splice|PPP2R2B_ENST00000504198.1_Splice_Site_p.E62_splice|PPP2R2B_ENST00000356826.3_Splice_Site_p.E56_splice|PPP2R2B_ENST00000394414.1_Splice_Site_p.E122_splice|PPP2R2B_ENST00000394409.3_Splice_Site_p.E114_splice Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 56 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACCACTTACCTCCTGCTCTC 0.463000 50 319 3.4597e-24 7.30381e-24 1 1 0 RASAL3 64926 broad.mit.edu 37 19 15565474 15565474 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:15565474C>T ENST00000343625.6 - 12 2032 c.1952G>A c.(1951-1953)cGt>cAt p.R651H NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 651 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CTACGGGGCACGGTTGGCGAG 0.662000 OREG0025322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 26 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44297173 44297173 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:44297173G>T ENST00000329255.3 - 2 605 c.502C>A c.(502-504)Cct>Act p.P168T NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 168 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TCAGAGTCAGGGGGTAACTCT 0.582000 19 41 3.99206e-14 7.7613e-14 1 1 0 LPCAT2 54947 broad.mit.edu 37 16 55562321 55562321 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:55562321G>T ENST00000262134.5 + 3 528 c.344G>T c.(343-345)gGt>gTt p.G115V NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 115 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 AAATTTCTGGGTCGTGCTATG 0.353000 5 64 0.014758 0.0158991 1 1 0 SGCZ 137868 broad.mit.edu 37 8 14181647 14181647 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:14181647G>T ENST00000382080.1 - 3 1016 c.301C>A c.(301-303)Ctt>Att p.L101I SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 88 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TACAATGGAAGTAGAAACTCA 0.348000 12 41 0.00010058 0.000126634 1 1 0 ATP2A2 488 broad.mit.edu 37 12 110783143 110783143 + Silent SNP G G T rs117494432 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:110783143G>T ENST00000395494.2 + 17 3179 c.2616G>T c.(2614-2616)gcG>gcT p.A872A ATP2A2_ENST00000539276.2_Silent_p.A899A|ATP2A2_ENST00000308664.6_Silent_p.A899A P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 899 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGACAATGGCGCTCTCTGTTC 0.507000 14 141 1.5842e-08 2.65942e-08 1 1 0 SLITRK6 84189 broad.mit.edu 37 13 86369536 86369536 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:86369536G>T ENST00000400286.2 - 2 1706 c.1108C>A c.(1108-1110)Cta>Ata p.L370I NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 370 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTTCCCGCTAGAATGAGCTTT 0.393000 7 64 1.06961e-07 1.70648e-07 1 1 0 ABCA9 10350 broad.mit.edu 37 17 67039722 67039722 + Silent SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:67039722T>A ENST00000340001.4 - 6 919 c.708A>T c.(706-708)acA>acT p.T236T ABCA9_ENST00000453985.2_Silent_p.T236T|ABCA9_ENST00000495634.1_Silent_p.T236T|ABCA9_ENST00000370732.2_Silent_p.T236T NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 236 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AGTATATAAATGTAGAAAAAG 0.338000 10 56 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48053949 48053949 + Splice_Site SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:48053949G>T ENST00000316364.5 + 7 977 c.e7+1 SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000358066.4_Splice_Site NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTCTTTGCTGGTAAGATCCTT 0.368000 17 60 8.60227e-14 1.64943e-13 1 1 0 PPHLN1 51535 broad.mit.edu 37 12 42781256 42781256 + Splice_Site SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:42781256A>T ENST00000432191.2 + 6 475 c.e6-1 PPHLN1_ENST00000449194.2_Splice_Site|PPHLN1_ENST00000256678.8_Splice_Site|PPHLN1_ENST00000395580.3_Splice_Site|PPHLN1_ENST00000549190.1_Splice_Site|PPHLN1_ENST00000552761.1_Splice_Site|PPHLN1_ENST00000317560.9_Splice_Site|PPHLN1_ENST00000358314.7_Splice_Site|PPHLN1_ENST00000395568.2_Splice_Site|PPHLN1_ENST00000337898.6_Splice_Site NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) TTTCTTATATAGATAAAGAGA 0.299000 11 44 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179631350 179631350 + Missense_Mutation SNP G G T rs145054790 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:179631350G>T ENST00000444136.1 + 15 2684 c.2434G>T c.(2434-2436)Gcc>Tcc p.A812S TDRD5_ENST00000367614.1_Missense_Mutation_p.A758S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A758S NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 808 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.A758T(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGGTGATGCTGCCTCCCATCT 0.433000 16 58 4.7546e-09 8.11194e-09 1 1 0 CTNND2 1501 broad.mit.edu 37 5 11411690 11411690 + Nonsense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:11411690C>A ENST00000304623.8 - 5 586 c.397G>T c.(397-399)Gaa>Taa p.E133* CTNND2_ENST00000511377.1_Nonsense_Mutation_p.E42*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.E42*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.E133* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 133 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 ATTCCTGATTCCTGTAGTGAC 0.378000 8 64 1.12685e-05 1.55453e-05 1 1 0 MEX3B 84206 broad.mit.edu 37 15 82335554 82335554 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:82335554C>T ENST00000329713.4 - 2 2092 c.1657G>A c.(1657-1659)Gag>Aag p.E553K MEX3B_ENST00000558133.1_3'UTR NM_032246.3 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 553 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 ACCGGGCACTCGGGCTCGCTC 0.632000 12 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071295 9071295 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:9071295C>A ENST00000397910.4 - 3 16354 c.16151G>T c.(16150-16152)aGc>aTc p.S5384I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5386 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACTCTGGGCTTGTTGTGCC 0.517000 46 158 3.76604e-16 7.53207e-16 1 1 0 SRRM1 10250 broad.mit.edu 37 1 24981384 24981384 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:24981384C>T ENST00000323848.9 + 9 1394 c.1079C>T c.(1078-1080)tCa>tTa p.S360L SRRM1_ENST00000374389.4_Missense_Mutation_p.S355L|SRRM1_ENST00000537199.1_Missense_Mutation_p.242_242insY|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S360L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 360 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GGGAGTAGCTCATCATCCTCT 0.463000 19 108 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893333 75893333 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:75893333C>A ENST00000322507.8 - 10 1633 c.1324G>T c.(1324-1326)Gtg>Ttg p.V442L COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V442L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V442L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 442 VWFA 2. IV -> M (in Ref. 4; AAC01506). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ACCAAAAACACAATATCGGCT 0.303000 6 78 5.18039e-06 7.26646e-06 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7725033 7725033 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:7725033G>T ENST00000303635.7 + 9 2633 c.2426G>T c.(2425-2427)gGg>gTg p.G809V CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809V NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 809 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCAGAGGACGGGGCGCGGGCC 0.682000 T WWTR1 epitheliod hemangioendothelioma 23 154 0.000229342 0.000285312 1 1 0 CHST1 8534 broad.mit.edu 37 11 45671729 45671729 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:45671729C>A ENST00000308064.2 - 4 1415 c.745G>T c.(745-747)Gac>Tac p.D249Y NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 249 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity p.D249N(1) breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGGTACGTGTCGCGGAAGGTC 0.647000 25 54 1.39806e-14 2.73078e-14 1 1 0 TMLHE 55217 broad.mit.edu 37 X 154736726 154736726 + Silent SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:154736726A>G ENST00000334398.3 - 6 973 c.828T>C c.(826-828)taT>taC p.Y276Y TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Silent_p.Y276Y NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 276 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GTTCTGCTGCATAGAATCCAT 0.388000 30 158 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117824037 117824037 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:117824037C>A ENST00000439649.3 - 10 1622 c.1255G>T c.(1255-1257)Ggt>Tgt p.G419C GFRA1_ENST00000355422.6_Missense_Mutation_p.G424C|GFRA1_ENST00000544592.1_Missense_Mutation_p.G303C|GFRA1_ENST00000369236.1_Missense_Mutation_p.G419C NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 424 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GCACCGAGACCTTCTTTTTCA 0.483000 11 46 6.40141e-05 8.1579e-05 1 1 0 CCDC80 151887 broad.mit.edu 37 3 112357214 112357214 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:112357214G>T ENST00000206423.3 - 2 2492 c.1539C>A c.(1537-1539)agC>agA p.S513R CCDC80_ENST00000439685.2_Missense_Mutation_p.S513R NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 513 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CAGTAGGCCGGCTGAGGTCAT 0.493000 14 77 0.00185496 0.00212431 1 1 0 OR6C68 403284 broad.mit.edu 37 12 55886198 55886198 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:55886198C>T ENST00000379662.1 + 1 52 c.52C>T c.(52-54)Ctg>Ttg p.L18L RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.L13L|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 ATTCATCCTTCTGGGACTGAC 0.393000 14 105 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894262 123894262 + Silent SNP G G T rs139965523 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:123894262G>T ENST00000375024.1 + 1 543 c.543G>T c.(541-543)ccG>ccT p.P181P NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181P(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTGATGCACCGCCCATCCTGA 0.542000 13 228 2.27111e-07 3.51602e-07 1 1 0 C1QTNF3 114899 broad.mit.edu 37 5 34035752 34035752 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:34035752C>A ENST00000382065.3 - 2 1121 c.415_splice c.e2+1 p.G139_splice C1QTNF3_ENST00000231338.7_Splice_Site_p.G66_splice NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 66 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) TCATCCTTACCTGGAATGCCA 0.522000 3 21 0.004672 0.00516639 1 1 0 PROSER1 80209 broad.mit.edu 37 13 39587157 39587157 + Silent SNP C C A rs111654569 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:39587157C>A ENST00000352251.3 - 11 3065 c.2232G>T c.(2230-2232)acG>acT p.T744T PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Silent_p.T722T NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 744 Ser-rich. GAACAGCTGCCGTTGAGCTAG 0.532000 17 114 1.99824e-07 3.11665e-07 1 1 0 TBC1D3P5 440419 broad.mit.edu 37 17 25753502 25753502 + RNA SNP C C T rs35094692 by1000genomes TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:25753502C>T ENST00000586223.1 + 0 1512 NR_033892.1 CTCGGGCTCACCCCGTGCCTG 0.567000 5 53 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105456494 105456494 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:105456494C>T ENST00000351513.2 - 4 907 c.775G>A c.(775-777)Gcg>Acg p.A259T NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 259 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTGCATCCGCTATCACCTTA 0.493000 12 37 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46920998 46920998 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:46920998C>T ENST00000378623.1 - 5 729 c.487G>A c.(487-489)Gag>Aag p.E163K NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 163 LDL-receptor class A 4. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TACCAATGCTCAGCAATGCAG 0.597000 26 74 0 0 1 0 0 NIM1K 167359 broad.mit.edu 37 5 43245938 43245938 + Silent SNP C C A rs55664335 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:43245938C>A ENST00000512796.1 + 2 1560 c.61C>A c.(61-63)Cgg>Agg p.R21R NIM1_ENST00000326035.2_Silent_p.R21R Q8IY84 NIM1_HUMAN 21 R -> W. ATP binding|magnesium ion binding|protein serine/threonine kinase activity CCGGTGGGATCGGCGCGACAG 0.602000 27 100 5.61819e-17 1.14e-16 1 1 0 JADE3 9767 broad.mit.edu 37 X 46898398 46898398 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:46898398C>T ENST00000218343.4 + 8 1201 c.903C>T c.(901-903)tcC>tcT p.S301S PHF16_ENST00000397189.1_Silent_p.S301S NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 301 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 CGAAGATCTCCCACATCCCAC 0.507000 17 91 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 402090 402090 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:402090C>A ENST00000399788.2 - 27 5063 c.4701G>T c.(4699-4701)aaG>aaT p.K1567N KDM5A_ENST00000382815.4_Missense_Mutation_p.K1567N|KDM5A_ENST00000540838.1_5'UTR NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1567 Lys-rich. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CTGCAGCAGCCTTCTCCTTCT 0.408000 T NUP98 AML 10 133 1.76689e-08 2.94248e-08 1 1 0 RNASE11 122651 broad.mit.edu 37 14 21052353 21052353 + Missense_Mutation SNP T T G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:21052353T>G ENST00000335950.4 - 3 743 c.281A>C c.(280-282)gAc>gCc p.D94A RNASE11_ENST00000555841.1_Missense_Mutation_p.D94A|RNASE11_ENST00000432835.2_Missense_Mutation_p.D94A|RNASE11_ENST00000553849.1_Missense_Mutation_p.D94A|RNASE11_ENST00000398009.2_Missense_Mutation_p.D94A|RNASE11_ENST00000398008.2_Missense_Mutation_p.D94A NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 94 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) ACACTCTTTGTCATTACCCGA 0.433000 7 157 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7804733 7804733 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:7804733G>A ENST00000338316.4 + 22 2900 c.2811G>A c.(2809-2811)aaG>aaA p.K937K ADCY2_ENST00000537121.1_Silent_p.K757K NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 937 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAGTTGAAAAGATTAAGACCA 0.502000 17 42 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132016329 132016329 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:132016329G>T ENST00000374786.1 + 2 800 c.321G>T c.(319-321)gtG>gtT p.V107V NTM_ENST00000425719.2_Silent_p.V107V|NTM_ENST00000427481.2_Silent_p.V98V|NTM_ENST00000374784.1_Silent_p.V107V|NTM_ENST00000539799.1_Silent_p.V107V|NTM_ENST00000374791.3_Silent_p.V107V NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 107 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 ACGTGGATGTGTATGACGAGG 0.572000 6 63 0.00116845 0.0013492 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98513385 98513385 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:98513385G>C ENST00000359863.4 + 19 2448 c.2239G>C c.(2239-2241)Gcg>Ccg p.A747P TRRAP_ENST00000355540.3_Missense_Mutation_p.A747P|TRRAP_ENST00000446306.3_Missense_Mutation_p.A746P NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 747 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TATGGAGCTCGCGCAGACTGC 0.522000 7 57 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136509364 136509364 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:136509364G>A ENST00000393056.2 + 5 958 c.946G>A c.(946-948)Ggc>Agc p.G316S NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 316 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) AGAGGAAGCCGGCCTTGCCTT 0.607000 19 61 0 0 1 0 0 CEP41 95681 broad.mit.edu 37 7 130042488 130042488 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:130042488C>A ENST00000223208.4 - 7 845 c.e7+1 CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa G2/M transition of mitotic cell cycle centrosome|cytosol CTCTCTCTTACCTCCAACAAT 0.512000 9 86 0.00621372 0.00681715 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158284166 158284166 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr4:158284166C>A ENST00000296526.7 + 15 2947 c.2622C>A c.(2620-2622)aaC>aaA p.N874K GRIA2_ENST00000449365.1_Missense_Mutation_p.N827K|GRIA2_ENST00000393815.2_Missense_Mutation_p.N827K|GRIA2_ENST00000507898.1_Missense_Mutation_p.N827K|GRIA2_ENST00000264426.9_Missense_Mutation_p.N874K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 874 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N874N(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AAGGTTACAACGTATATGGCA 0.408000 22 102 7.87624e-14 1.51718e-13 1 1 0 KIAA0355 9710 broad.mit.edu 37 19 34838870 34838870 + Silent SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:34838870A>G ENST00000299505.6 + 11 3483 c.2610A>G c.(2608-2610)ccA>ccG p.P870P NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 870 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GTCGCCGGCCAGGCAACCCCC 0.647000 7 42 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633875 32633875 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:32633875C>A ENST00000242310.4 - 1 1792 c.1703G>T c.(1702-1704)aGg>aTg p.R568M RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 568 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGGTTCCTCCCTGATGACACC 0.488000 32 261 3.80469e-20 7.91225e-20 1 1 0 MEOX2 4223 broad.mit.edu 37 7 15666539 15666539 + Silent SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:15666539G>C ENST00000262041.5 - 2 931 c.522C>G c.(520-522)tcC>tcG p.S174S NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 174 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TTCCTTCCTGGGAGTCTGAAA 0.363000 12 82 0 0 1 0 0 ORAI1 84876 broad.mit.edu 37 12 122064794 122064794 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:122064794G>T ENST00000330079.7 + 1 340 c.147G>T c.(145-147)ccG>ccT p.P49P NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 47 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) caccgccgccgtccgccgtca 0.736000 4 24 0.00024832 0.000305288 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50054333 50054333 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:50054333C>A ENST00000376042.1 + 6 3462 c.3164C>A c.(3163-3165)aCc>aAc p.T1055N CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.T1055N Q8WWL7 CCNB3_HUMAN cyclin B3 1055 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CAAATTGGAACCAGCCCATAT 0.522000 24 123 2.79863e-10 4.97799e-10 1 1 0 NUP210L 91181 broad.mit.edu 37 1 153967592 153967592 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:153967592G>T ENST00000368559.3 - 38 5522 c.5451C>A c.(5449-5451)acC>acA p.T1817T NUP210L_ENST00000271854.3_Silent_p.T1665T|NUP210L_ENST00000368553.1_Silent_p.T598T NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1817 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CTGCAAAGAGGGTCAAGAGCA 0.398000 6 51 0.0293803 0.03117 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50780103 50780103 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:50780103G>C ENST00000404971.1 - 10 2840 c.1501C>G c.(1501-1503)Cct>Gct p.P501A NRXN1_ENST00000401669.2_Missense_Mutation_p.P461A|NRXN1_ENST00000406859.3_Missense_Mutation_p.P461A|NRXN1_ENST00000405472.3_Missense_Mutation_p.P453A|NRXN1_ENST00000406316.2_Missense_Mutation_p.P461A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.P453A NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 461 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTCATCTTAGGATCTCCTTGC 0.423000 10 98 0 0 1 0 0 PDIA3 2923 broad.mit.edu 37 15 44059003 44059003 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:44059003G>T ENST00000300289.5 + 8 1071 c.923G>T c.(922-924)aGc>aTc p.S308I PDIA3_ENST00000538521.1_Missense_Mutation_p.S288I NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 308 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) AAAACCTTTAGCCATGAACTT 0.458000 7 63 0.000274275 0.000333276 1 1 0 HTR1B 3351 broad.mit.edu 37 6 78173117 78173117 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:78173117C>T ENST00000369947.2 - 1 373 c.4G>A c.(4-6)Gag>Aag p.E2K NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 2 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CCCGGTTCCTCCATGGCTCTC 0.667000 5 35 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095243 145095243 + Silent SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:145095243C>G ENST00000377470.3 + 2 747 c.645C>G c.(643-645)gcC>gcG p.A215A SPATC1_ENST00000447830.2_Silent_p.A215A NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 215 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCTGCTGGCCAACCCCATGA 0.687000 4 64 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63409826 63409826 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:63409826G>T ENST00000330258.3 - 2 3613 c.3341C>A c.(3340-3342)gCt>gAt p.A1114D AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) ACCTTGCTCAGCCCTCTCCTT 0.582000 3 8 6.4e-05 8.1579e-05 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11784660 11784660 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:11784660G>A ENST00000262442.3 + 55 10804 c.10736G>A c.(10735-10737)aGg>aAg p.R3579K DNAH9_ENST00000454412.2_Missense_Mutation_p.R3579K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3579 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCGTGACCAGGGATGGCCTG 0.582000 11 59 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216074237 216074237 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:216074237G>T ENST00000366943.2 - 39 7697 c.7311C>A c.(7309-7311)ggC>ggA p.G2437G RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.G2437G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2437 Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAGGCAGCACGCCATCTGGAG 0.483000 HNSCC(13;0.011) 9 59 0.000274275 0.000333276 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803584 185803584 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:185803584G>T ENST00000302277.6 + 4 4055 c.3461G>T c.(3460-3462)aGg>aTg p.R1154M NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1154 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GTAGGACCGAGGCTTTGTCCT 0.493000 15 151 1.49906e-05 2.03444e-05 1 1 0 KCNG1 3755 broad.mit.edu 37 20 49626618 49626618 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:49626618C>T ENST00000371571.4 - 2 543 c.258G>A c.(256-258)ctG>ctA p.L86L KCNG1_ENST00000396017.3_Silent_p.L86L NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 86 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CCAGGCGCGTCAGCGGGAACT 0.627000 10 34 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 46 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58437916 58437916 + Nonsense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:58437916T>A ENST00000396147.1 - 4 1924 c.1633A>T c.(1633-1635)Aag>Tag p.K545* ZNF418_ENST00000595830.1_Nonsense_Mutation_p.K545*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.K566*|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.K460*|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TGAAATGACTTTCCACATTCT 0.448000 15 99 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36169749 36169749 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:36169749C>A ENST00000335119.2 + 1 361 c.250C>A c.(250-252)Cag>Aag p.Q84K NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 84 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CACAGTGGACCAGCTTCTGGA 0.537000 17 43 2.48551e-13 4.70109e-13 1 1 0 SYT10 341359 broad.mit.edu 37 12 33579269 33579269 + Missense_Mutation SNP T T A rs147756240 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:33579269T>A ENST00000228567.3 - 2 609 c.313A>T c.(313-315)Act>Tct p.T105S SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 105 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) AAAACTTCAGTAGGAGCACTT 0.423000 6 68 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191362 152191362 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:152191362G>T ENST00000368801.2 - 3 2818 c.2743C>A c.(2743-2745)Cgg>Agg p.R915R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 915 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAAGACCGACCGGAGCCA 0.627000 46 177 1.02687e-29 2.18995e-29 1 1 0 A2M 2 broad.mit.edu 37 12 9265989 9265989 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:9265989C>T ENST00000318602.7 - 2 544 c.237G>A c.(235-237)gcG>gcA p.A79A NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 79 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CGTCATTCTCCGCCTCCAGGT 0.493000 6 105 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49084562 49084562 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:49084562C>A ENST00000395443.2 - 4 1928 c.1456G>T c.(1456-1458)Gcc>Tcc p.A486S QRICH1_ENST00000424300.1_Missense_Mutation_p.A486S|QRICH1_ENST00000357496.2_Missense_Mutation_p.A486S|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 486 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TTGGTCTGGGCCCAGTTTTTC 0.483000 10 92 0.000673444 0.000786312 1 1 0 SEC14L3 266629 broad.mit.edu 37 22 30857594 30857594 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:30857594C>A ENST00000403066.1 - 11 965 c.682G>T c.(682-684)Ggc>Tgc p.G228C SEC14L3_ENST00000215812.4_Missense_Mutation_p.G287C|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G210C|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G228C|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G228C|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G210C|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G228C Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 287 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TGTGATGAGCCGCGGTTGATC 0.572000 9 36 0.00621372 0.00681715 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132547 91132547 + Silent SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:91132547A>G ENST00000373094.1 + 2 2153 c.1308A>G c.(1306-1308)ttA>ttG p.L436L PCDH11X_ENST00000298274.8_Silent_p.L436L|PCDH11X_ENST00000373088.1_Silent_p.L436L|PCDH11X_ENST00000395337.2_Silent_p.L436L|PCDH11X_ENST00000361724.1_Silent_p.L436L|PCDH11X_ENST00000504220.1_Silent_p.L436L|PCDH11X_ENST00000406881.1_Silent_p.L436L|PCDH11X_ENST00000373097.1_Silent_p.L436L|PCDH11X_ENST00000361655.2_Silent_p.L436L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 436 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCATTAAATTACTGGCTGCAG 0.408000 18 129 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854020 40854020 + Silent SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:40854020A>G ENST00000254691.5 + 3 2785 c.2586A>G c.(2584-2586)gcA>gcG p.A862A CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 862 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CAGCAAGAGCAGTAGGGAAGC 0.498000 17 184 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101192911 101192911 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:101192911C>T ENST00000264254.6 + 6 1051 c.673C>T c.(673-675)Cgg>Tgg p.R225W NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 225 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 GTCCTCAGTGCGGCGCTCTGT 0.478000 8 80 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22397611 22397611 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:22397611G>T ENST00000263160.3 + 10 1695 c.1258G>T c.(1258-1260)Gtg>Ttg p.V420L NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 420 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GGTACTTGCAGTGGGATTCAG 0.393000 8 65 0.00448238 0.00499636 1 1 0 PSG5 5673 broad.mit.edu 37 19 43683302 43683302 + Silent SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:43683302A>G ENST00000599812.1 - 3 533 c.438T>C c.(436-438)acT>acC p.T146T PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 146 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AGGGCTTGGGAGTTTCCACTT 0.502000 18 186 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37533698 37533698 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:37533698G>T ENST00000216223.5 - 6 664 c.466C>A c.(466-468)Caa>Aaa p.Q156K NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 156 Fibronectin type-III. interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TGGGAGGCTTGGGAGATTTCC 0.602000 10 79 0.00829132 0.0090727 1 1 0 SYT13 57586 broad.mit.edu 37 11 45275830 45275830 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:45275830G>A ENST00000020926.3 - 3 646 c.535C>T c.(535-537)Cgc>Tgc p.R179C CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 179 C2 1. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCTTCCAGGCGAGTCACAAAC 0.547000 18 28 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32117106 32117106 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:32117106C>A ENST00000295065.4 - 6 844 c.535G>T c.(535-537)Gat>Tat p.D179Y MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.D156Y|MEMO1_ENST00000404530.1_Missense_Mutation_p.D179Y|MEMO1_ENST00000379383.3_Missense_Mutation_p.D182Y NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 179 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) TTACTAGGATCCGCTAGATAT 0.373000 22 86 6.44725e-10 1.13711e-09 1 1 0 DTD2 112487 broad.mit.edu 37 14 31917363 31917363 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:31917363C>A ENST00000310850.4 - 3 595 c.479G>T c.(478-480)gGa>gTa p.G160V RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Missense_Mutation_p.G160V|CTD-2213F21.2_ENST00000502430.2_RNA NM_080664.2 NP_542395.1 D-tyrosyl-tRNA deacylase 2 (putative) TGTGAATGGTCCGTTGGTGTC 0.383000 44 194 1.63429e-32 3.50324e-32 1 1 0 FLT1 2321 broad.mit.edu 37 13 28901629 28901629 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:28901629C>T ENST00000282397.4 - 20 3017 c.2766G>A c.(2764-2766)aaG>aaA p.K922K FLT1_ENST00000540678.1_Silent_p.K140K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 922 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CACGTTTGCTCTTGAGGTAGT 0.388000 5 16 0 0 1 0 0 MPPED2 744 broad.mit.edu 37 11 30516925 30516925 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:30516925C>A ENST00000448418.2 - 4 814 c.454G>T c.(454-456)Gtt>Ttt p.V152F MPPED2_ENST00000358117.5_Missense_Mutation_p.V152F NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 152 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 AGGGACTGAACATTGTCAAAG 0.418000 19 59 5.35267e-07 8.16575e-07 1 1 0 NYAP2 57624 broad.mit.edu 37 2 226273760 226273760 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:226273760T>A ENST00000272907.6 + 2 577 c.164T>A c.(163-165)cTa>cAa p.L55Q NYAP2_ENST00000409269.2_Missense_Mutation_p.L55Q NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 55 GAAACTAACCTAGCCTATTTG 0.363000 7 35 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9486767 9486767 + Missense_Mutation SNP A A C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:9486767A>C ENST00000402466.1 + 13 1697 c.929A>C c.(928-930)aAc>aCc p.N310T SETD5_ENST00000406341.1_Missense_Mutation_p.N408T|SETD5_ENST00000407969.1_Missense_Mutation_p.N427T|SETD5_ENST00000302463.6_Missense_Mutation_p.N310T|SETD5_ENST00000402198.1_Missense_Mutation_p.N408T Q9C0A6 SETD5_HUMAN SET domain containing 5 408 SET. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CACAAGGGAAACCGGAATTGT 0.438000 6 60 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132436998 132436998 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:132436998G>A ENST00000370828.3 - 9 2092 c.1568C>T c.(1567-1569)gCc>gTc p.A523V GPC4_ENST00000535467.1_Missense_Mutation_p.A453V NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 523 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) TTTCTCATTGGCACTCTTCCC 0.527000 56 261 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137211527 137211527 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:137211527G>T ENST00000239926.4 + 3 740 c.366G>T c.(364-366)caG>caT p.Q122H MYOT_ENST00000515645.1_Missense_Mutation_p.Q7H|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 122 Necessary for interaction with ACTN1. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTATCAACAGTCCTCAGCTG 0.363000 19 54 2.94398e-08 4.86397e-08 1 1 0 SNAP91 9892 broad.mit.edu 37 6 84366506 84366506 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:84366506C>T ENST00000428679.2 - 7 1218 c.625G>A c.(625-627)Gct>Act p.A209T SNAP91_ENST00000520213.1_Missense_Mutation_p.A209T|SNAP91_ENST00000369694.2_Missense_Mutation_p.A209T|SNAP91_ENST00000195649.6_Missense_Mutation_p.A209T|SNAP91_ENST00000437520.1_Missense_Mutation_p.A209T|SNAP91_ENST00000521485.1_Missense_Mutation_p.A209T|SNAP91_ENST00000439399.2_Missense_Mutation_p.A209T|SNAP91_ENST00000521743.1_Missense_Mutation_p.A209T|SNAP91_ENST00000520302.1_Missense_Mutation_p.A209T O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 209 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TTGTAGCAAGCAAAAAGTTTG 0.358000 3 14 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246784846 246784846 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:246784846G>T ENST00000366513.4 + 3 764 c.495G>T c.(493-495)gcG>gcT p.A165A CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.A165A NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 165 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AGCCAGAGGCGCCAAAGCTTG 0.438000 35 116 4.65686e-17 9.49546e-17 1 1 0 CACNB2 783 broad.mit.edu 37 10 18816542 18816542 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:18816542G>A ENST00000396576.2 + 9 1306 c.805G>A c.(805-807)Gac>Aac p.D269N CACNB2_ENST00000352115.6_Missense_Mutation_p.D300N|CACNB2_ENST00000377331.2_Missense_Mutation_p.D272N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.D324N|CACNB2_ENST00000377319.3_Missense_Mutation_p.D231N|CACNB2_ENST00000377329.4_Missense_Mutation_p.D270N|CACNB2_ENST00000377315.4_Missense_Mutation_p.D276N|CACNB2_ENST00000282343.8_Missense_Mutation_p.D296N NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 324 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGTCACCGCTGACATCTCGCT 0.438000 5 65 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154465 22154465 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:22154465G>T ENST00000397126.4 - 4 3519 c.3371C>A c.(3370-3372)aCg>aAg p.T1124K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GATTGAGAACGTACTAAAGCT 0.393000 10 72 0.335167 0.340876 1 1 0 RBBP6 5930 broad.mit.edu 37 16 24564864 24564864 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:24564864G>T ENST00000319715.4 + 4 766 c.334G>T c.(334-336)Gcc>Tcc p.A112S RBBP6_ENST00000348022.2_Missense_Mutation_p.A112S|RBBP6_ENST00000381039.3_Missense_Mutation_p.A112S NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 112 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TATTTCTCTGGCCCAGCTTAC 0.313000 5 74 3.59834e-05 4.67113e-05 1 1 0 NKRF 55922 broad.mit.edu 37 X 118723886 118723886 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:118723886T>C ENST00000371527.1 - 2 2154 c.1502A>G c.(1501-1503)tAt>tGt p.Y501C NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.Y501C|NKRF_ENST00000542113.1_Missense_Mutation_p.Y516C NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 501 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 AGCAGCTTCATATTTGACAGT 0.418000 40 178 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 47 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52054069 52054069 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr6:52054069G>T ENST00000340057.1 + 3 492 c.447G>T c.(445-447)ccG>ccT p.P149P NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 149 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity p.P149P(1) endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) GTGTCACCCCGATTGTCCACC 0.607000 6 37 0.00116845 0.0013492 1 1 0 TMEM8A 58986 broad.mit.edu 37 16 422062 422062 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:422062C>A ENST00000431232.2 - 13 2401 c.2241G>T c.(2239-2241)tgG>tgT p.W747C TMEM8A_ENST00000250930.3_Missense_Mutation_p.W554C NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 747 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 GCGAGCAGGCCCAGGGCTCGG 0.622000 18 50 1.67942e-08 2.80798e-08 1 1 0 MSH3 4437 broad.mit.edu 37 5 80109434 80109434 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:80109434G>T ENST00000265081.6 + 20 2767 c.2687G>T c.(2686-2688)gGa>gTa p.G896V NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 896 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATAATTACCGGACCAAACATG 0.373000 Mismatch excision repair (MMR) 5 71 0.184627 0.191025 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900432 151900432 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:151900432C>G ENST00000393900.3 - 3 722 c.369G>C c.(367-369)aaG>aaC p.K123N CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.K123N|MAGEA12_ENST00000393869.3_Missense_Mutation_p.K123N NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 123 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TGGCTCGATACTTGAGGAGCA 0.498000 11 205 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328700 23328700 + Missense_Mutation SNP A A C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:23328700A>C ENST00000597761.2 + 4 1053 c.854A>C c.(853-855)aAa>aCa p.K285T NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 AAACCCTATAAATGTGAAGAA 0.358000 4 30 0 0 1 0 0 HDHD1 8226 broad.mit.edu 37 X 7023769 7023769 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:7023769C>A ENST00000381077.5 - 2 248 c.172G>T c.(172-174)Gca>Tca p.A58S HDHD1_ENST00000540122.1_Missense_Mutation_p.A58S|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.A81S|HDHD1_ENST00000412827.2_Intron NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 58 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 ATAATCTGTGCCGCCTCTAAT 0.463000 7 18 0.00198382 0.00224725 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23526494 23526494 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:23526494G>T ENST00000296682.3 + 11 1479 c.1297G>T c.(1297-1299)Ggg>Tgg p.G433W NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 433 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCCCTGCCCAGGGGATCAGAA 0.448000 HNSCC(3;0.000094) 6 63 5.9392e-07 8.9624e-07 1 1 0 ACY1 95 broad.mit.edu 37 3 52022570 52022570 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:52022570G>A ENST00000458031.2 + 15 1453 c.1222G>A c.(1222-1224)Gat>Aat p.D408N ACY1_ENST00000494103.1_Missense_Mutation_p.D246N|ACY1_ENST00000476351.1_Missense_Mutation_p.D283N|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D419N|ACY1_ENST00000404366.2_Missense_Mutation_p.D318N|ACY1_ENST00000476854.1_Missense_Mutation_p.D253N Q03154 ACY1_HUMAN aminoacylase 1 318 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) GACACCTACTGATGACTCAAA 0.572000 7 51 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11384979 11384979 + Silent SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:11384979G>C ENST00000304623.8 - 7 1164 c.975C>G c.(973-975)ggC>ggG p.G325G CTNND2_ENST00000511377.1_Silent_p.G234G|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.G325G NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 325 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCGGGGACAGGCCGGCCGAGG 0.706000 3 10 0 0 1 0 0 ELK4 2005 broad.mit.edu 37 1 205589774 205589774 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:205589774T>C ENST00000357992.4 - 3 739 c.400A>G c.(400-402)Aag>Gag p.K134E ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.K134E NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTAGAGGTCTTGGCACCAGGC 0.413000 T SLC45A3 prostate 5 55 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22035700 22035700 + Splice_Site SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:22035700C>A ENST00000261200.4 - 14 2018 c.2019_splice c.e14+1 p.K673_splice ABCC9_ENST00000261201.4_Splice_Site_p.K673_splice|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Intron NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 673 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAAAATAACCTTTATTGCAA 0.373000 5 73 1.23904e-05 1.68703e-05 1 1 0 AKNA 80709 broad.mit.edu 37 9 117106038 117106038 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:117106038T>C ENST00000307564.4 - 19 3868 c.3707A>G c.(3706-3708)aAt>aGt p.N1236S AKNA_ENST00000374079.4_Missense_Mutation_p.N181S|AKNA_ENST00000223791.3_Missense_Mutation_p.N696S|AKNA_ENST00000374075.5_Missense_Mutation_p.N1155S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.N1236S NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GACTGTGCCATTGCCTTTTGG 0.562000 7 52 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098218 144098218 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:144098218G>T ENST00000467773.1 - 4 764 c.765C>A c.(763-765)aaC>aaA p.N255K NOBOX_ENST00000223140.5_Missense_Mutation_p.N170K|NOBOX_ENST00000483238.1_Missense_Mutation_p.N255K NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 255 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTCTGTTTTGGTTGCTCTGCG 0.582000 7 22 0.0293803 0.03117 1 1 0 SELP 6403 broad.mit.edu 37 1 169582859 169582859 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:169582859C>T ENST00000263686.6 - 4 591 c.554G>A c.(553-555)tGt>tAt p.C185Y SELP_ENST00000458599.2_Missense_Mutation_p.C185Y|SELP_ENST00000367794.2_Missense_Mutation_p.C185Y|SELP_ENST00000367793.2_Missense_Mutation_p.C185Y|SELP_ENST00000367792.2_Missense_Mutation_p.C185Y|SELP_ENST00000367786.2_Missense_Mutation_p.C185Y|SELP_ENST00000367788.2_Missense_Mutation_p.C185Y|SELP_ENST00000367791.2_Missense_Mutation_p.C185Y NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 185 EGF-like. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TCCAGGGTAACAGGAGCAGGT 0.458000 5 63 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48741850 48741850 + Silent SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:48741850C>G ENST00000544117.2 - 2 774 c.66G>C c.(64-66)gcG>gcC p.A22A ZNF641_ENST00000301042.3_Silent_p.A22A|ZNF641_ENST00000547026.1_Silent_p.A8A|ZNF641_ENST00000448928.3_Silent_p.A8A Q96N77 ZN641_HUMAN zinc finger protein 641 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 CTGTCCCCAGCGCTGCTGTCT 0.502000 16 63 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33579274 33579274 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:33579274G>A ENST00000228567.3 - 2 604 c.308C>T c.(307-309)gCt>gTt p.A103V SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 103 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.A103G(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTCAGTAGGAGCACTTGAAAT 0.413000 6 62 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44272448 44272448 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:44272448G>A ENST00000395749.2 - 16 1225 c.1149C>T c.(1147-1149)gtC>gtT p.V383V CAMK2B_ENST00000347193.4_Silent_p.V359V|CAMK2B_ENST00000258682.6_Silent_p.V358V|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000350811.3_Silent_p.V383V|CAMK2B_ENST00000395747.2_Silent_p.V359V|CAMK2B_ENST00000457475.1_Silent_p.V359V|CAMK2B_ENST00000502837.2_Silent_p.V254V|CAMK2B_ENST00000440254.2_Silent_p.V383V|CAMK2B_ENST00000346990.4_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 383 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GGTTATGGATGACGGTGGTTT 0.582000 6 37 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930353 121930353 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:121930353C>A ENST00000265922.3 - 8 1756 c.1295G>T c.(1294-1296)gGg>gTg p.G432V DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 432 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGTTGTTCCCGCCTATCAC 0.627000 7 23 2.0095e-06 2.92672e-06 1 1 0 G6PC 2538 broad.mit.edu 37 17 41063323 41063323 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:41063323C>A ENST00000253801.2 + 5 1033 c.954C>A c.(952-954)gtC>gtA p.V318V G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 318 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) CATCCCAAGTCGAGCTGGTCT 0.592000 10 203 0.000673444 0.000786312 1 1 0 MAGT1 84061 broad.mit.edu 37 X 77126340 77126340 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:77126340C>T ENST00000358075.6 - 3 537 c.451G>A c.(451-453)Gtg>Atg p.V151M MAGT1_ENST00000373336.3_Missense_Mutation_p.V119M NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 119 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 TCAAAATCCACCATGGCAAAA 0.373000 14 103 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78217004 78217004 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:78217004G>T ENST00000171757.2 + 4 1267 c.987G>T c.(985-987)atG>atT p.M329I P2RY10_ENST00000544091.1_Missense_Mutation_p.M329I NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 329 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCCGCCTCATGAGCAAGGAGA 0.433000 27 138 1.42536e-11 2.60174e-11 1 1 0 PRDM2 7799 broad.mit.edu 37 1 14142987 14142987 + Nonsense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:14142987G>T ENST00000376048.5 + 7 703 c.577G>T c.(577-579)Gga>Tga p.G193* PRDM2_ENST00000235372.7_Missense_Mutation_p.R1701M|PRDM2_ENST00000503842.1_Nonsense_Mutation_p.G29*|PRDM2_ENST00000505823.1_Nonsense_Mutation_p.G29* NM_001135610.1 NP_001129082.1 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1523 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGGCAGTATAGGAAGGTCAAA 0.572000 4 48 0.00024832 0.000305288 1 1 0 FBN2 2201 broad.mit.edu 37 5 127863648 127863648 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:127863648C>A ENST00000508053.1 - 10 1423 c.449G>T c.(448-450)aGt>aTt p.S150I FBN2_ENST00000262464.4_Missense_Mutation_p.S150I|FBN2_ENST00000508989.1_Missense_Mutation_p.S117I P35556 FBN2_HUMAN fibrillin 2 150 EGF-like 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCATCTCACACTGCACTGCTG 0.368000 8 33 0.000442599 0.000531628 1 1 0 ARMCX3 51566 broad.mit.edu 37 X 100880276 100880276 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:100880276C>A ENST00000341189.4 + 5 1173 c.307C>A c.(307-309)Cgg>Agg p.R103R ARMCX3_ENST00000471229.2_Silent_p.R103R|ARMCX3_ENST00000537169.1_Silent_p.R103R NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 103 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 CCGGGCACGTCGGGCTGTCCA 0.552000 18 87 0.000566183 0.000678122 1 1 0 DZIP1L 199221 broad.mit.edu 37 3 137807237 137807237 + Missense_Mutation SNP T T C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:137807237T>C ENST00000327532.2 - 6 1345 c.983A>G c.(982-984)gAg>gGg p.E328G DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.E328G NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 328 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 TTCTGTCTTCTCTCTCAGGGC 0.512000 9 22 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177930729 177930729 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:177930729C>A ENST00000308284.6 - 6 872 c.783G>T c.(781-783)caG>caT p.Q261H RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.Q261H|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.Q261H NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 261 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 ACCCACCAGCCTGAACTGGAC 0.522000 5 38 1.06961e-07 1.70648e-07 1 1 0 HEATR4 399671 broad.mit.edu 37 14 73959804 73959804 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:73959804G>C ENST00000553558.1 - 17 3131 c.2810C>G c.(2809-2811)cCt>cGt p.P937R HEATR4_ENST00000560393.1_Missense_Mutation_p.P890R|HEATR4_ENST00000334988.2_Missense_Mutation_p.P937R|C14orf169_ENST00000531973.1_RNA NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) AACCTCGGAAGGTCTTCTAGG 0.388000 20 82 0 0 1 0 0 CDK16 5127 broad.mit.edu 37 X 47087980 47087980 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:47087980G>T ENST00000457458.2 + 15 1828 c.1408G>T c.(1408-1410)Gca>Tca p.A470S CDK16_ENST00000357227.4_Missense_Mutation_p.A464S|CDK16_ENST00000276052.6_Missense_Mutation_p.A538S|CDK16_ENST00000518022.1_Missense_Mutation_p.A464S NM_033018.3 NP_148978.2 Q00536 CDK16_HUMAN cyclin-dependent kinase 16 464 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(3) 11 TTCCATATTTGCACTAAAGGA 0.527000 18 66 6.94344e-10 1.21948e-09 1 1 0 TTN 7273 broad.mit.edu 37 2 179398165 179398165 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:179398165T>A ENST00000589042.1 - 358 103401 c.103177A>T c.(103177-103179)Aca>Tca p.T34393S TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25328S|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25520S|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32752S|TTN_ENST00000359218.5_Missense_Mutation_p.T25453S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31825S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32752 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTTTAATGTTGGTGGGGGG 0.463000 15 49 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155235138 155235138 + Nonsense_Mutation SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:155235138A>T ENST00000424344.3 + 7 1079 c.712A>T c.(712-714)Aga>Tga p.R238* IL9R_ENST00000540897.1_Nonsense_Mutation_p.R284*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.R259*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.R294* Q01113 IL9R_HUMAN interleukin 9 receptor 259 Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGCTCCCCAGAGACAAGGTGG 0.612000 3 27 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36046601 36046601 + Silent SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:36046601C>G ENST00000540320.1 + 41 7047 c.6513C>G c.(6511-6513)ctC>ctG p.L2171L NBEA_ENST00000310336.4_Silent_p.L2171L|NBEA_ENST00000400445.3_Silent_p.L2171L|NBEA_ENST00000379939.2_Silent_p.L2168L Q8NFP9 NBEA_HUMAN neurobeachin 2171 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGGGGACTCTCTCCATCACCA 0.547000 5 24 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5282815 5282815 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:5282815C>A ENST00000546004.1 - 3 1272 c.1026G>T c.(1024-1026)aaG>aaT p.K342N PROKR2_ENST00000217270.3_Missense_Mutation_p.K342N Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 342 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TCTTGAAGTACTTCATGGTGT 0.562000 HNSCC(71;0.22) 32 99 2.08457e-15 4.11014e-15 1 1 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:7578550G>A ENST00000420246.2 - 5 512 c.380C>T c.(379-381)tCc>tTc p.S127F TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGGCAGGGGAGTACTGTAG 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 21 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682749 31682749 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:31682749G>T ENST00000319386.3 + 11 2314 c.1321G>T c.(1321-1323)Gtg>Ttg p.V441L CCDC129_ENST00000409210.1_Missense_Mutation_p.V497L|CCDC129_ENST00000407970.3_Missense_Mutation_p.V589L|CCDC129_ENST00000451887.2_Missense_Mutation_p.V615L Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 589 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AGCTGGCAAAGTGCAAAGCCA 0.488000 31 147 4.3181e-19 8.89146e-19 1 1 0 AMFR 267 broad.mit.edu 37 16 56439145 56439145 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr16:56439145C>A ENST00000290649.5 - 5 888 c.678G>T c.(676-678)gtG>gtT p.V226V NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 226 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TCCTCACTGTCACAAGAAGAG 0.363000 6 47 5.9392e-07 8.9624e-07 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31904609 31904609 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:31904609C>A ENST00000396184.3 - 8 901 c.697G>T c.(697-699)Gct>Tct p.A233S PDE1C_ENST00000396182.2_Missense_Mutation_p.A233S|PDE1C_ENST00000396191.1_Missense_Mutation_p.A233S|PDE1C_ENST00000396193.1_Missense_Mutation_p.A293S|PDE1C_ENST00000321453.7_Missense_Mutation_p.A233S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 233 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ACATCGGCAGCGTGCATTAAG 0.463000 12 80 5.16669e-11 9.30894e-11 1 1 0 SSPO 23145 broad.mit.edu 37 7 149526084 149526084 + RNA SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:149526084G>A ENST00000378016.2 + 0 15141 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGAGGCTCCGGGTATGGAGG 0.652000 4 7 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681159 161681159 + Missense_Mutation SNP G G T rs142089406 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:161681159G>T ENST00000540926.1 + 4 705 c.412G>T c.(412-414)Gtg>Ttg p.V138L FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.V132L|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000236938.6_Missense_Mutation_p.V149L|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.V138L|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.V155L Q7L513 FCRLA_HUMAN Fc receptor-like A 132 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CTCCATCACCGTGGTACAAAA 0.587000 14 28 3.27435e-08 5.36737e-08 1 1 0 ZC4H2 55906 broad.mit.edu 37 X 64138939 64138939 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:64138939G>T ENST00000545618.1 - 5 1092 c.529C>A c.(529-531)Cag>Aag p.Q177K ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Missense_Mutation_p.Q182K|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.Q159K Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 182 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GGTGGGGGCTGCTGCCTGAAG 0.612000 7 86 5.18039e-06 7.26646e-06 1 1 0 NALCN 259232 broad.mit.edu 37 13 101712311 101712311 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:101712311C>G ENST00000251127.6 - 42 4845 c.4764G>C c.(4762-4764)caG>caC p.Q1588H NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1588 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCACGACTGCTGCTGTTTCT 0.532000 6 48 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747251 19747251 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:19747251C>A ENST00000507958.1 - 6 1313 c.323G>T c.(322-324)gGt>gTt p.G108V CDH18_ENST00000382275.1_Missense_Mutation_p.G108V|CDH18_ENST00000274170.4_Missense_Mutation_p.G108V|CDH18_ENST00000511273.1_Missense_Mutation_p.G108V|CDH18_ENST00000506372.1_Missense_Mutation_p.G108V|CDH18_ENST00000502796.1_Missense_Mutation_p.G108V Q13634 CAD18_HUMAN cadherin 18, type 2 108 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTGGATATCACCCGTGGTATC 0.448000 28 84 1.42536e-11 2.60174e-11 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48349569 48349569 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:48349569C>T ENST00000435803.1 + 24 9371 c.9347C>T c.(9346-9348)gCt>gTt p.A3116V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3116 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 CTCACCGTAGCTCTGTCTGGA 0.498000 7 78 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237754186 237754186 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:237754186G>T ENST00000366574.2 + 31 4371 c.4054G>T c.(4054-4056)Ggc>Tgc p.G1352C RYR2_ENST00000360064.6_Missense_Mutation_p.G1350C|RYR2_ENST00000542537.1_Missense_Mutation_p.G1336C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1352 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACAGCTCATGGCCATCTAGT 0.483000 18 44 7.05477e-17 1.41774e-16 1 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105420500 105420500 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:105420500G>C ENST00000258494.9 - 22 2679 c.2539C>G c.(2539-2541)Cga>Gga p.R847G C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 847 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 CTATTTGCTCGCTGCAACACT 0.368000 9 196 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28502359 28502359 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:28502359G>A ENST00000261609.7 - 17 2473 c.2365C>T c.(2365-2367)Cct>Tct p.P789S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 789 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACCACAAAAGGGACACGGAGG 0.532000 6 44 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68609660 68609660 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:68609660C>T ENST00000423218.2 - 21 2753 c.2658G>A c.(2656-2658)agG>agA p.R886R ITGA11_ENST00000315757.7_Silent_p.R886R Q9UKX5 ITA11_HUMAN integrin, alpha 11 886 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TCTGGAGCCTCCTCTCCTCGT 0.602000 4 54 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40704819 40704819 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:40704819T>A ENST00000372771.4 + 8 4472 c.4445T>A c.(4444-4446)gTa>gAa p.V1482E NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1482 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGCCAGAAAGTAGCAAATGAG 0.393000 6 57 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718878 2718878 + Missense_Mutation SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr9:2718878G>A ENST00000382082.3 + 1 1377 c.1139G>A c.(1138-1140)cGc>cAc p.R380H NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 380 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CGCGTCATGCGCCTCATGCGC 0.667000 14 33 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51220041 51220041 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:51220041C>A ENST00000293441.1 - 1 154 c.136G>T c.(136-138)Ggg>Tgg p.G46W SHANK1_ENST00000391814.1_Missense_Mutation_p.G46W|SHANK1_ENST00000359082.3_Missense_Mutation_p.G46W NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 46 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCAGGTGCCCCACTGCCCTGG 0.682000 6 22 0.27861 0.284741 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113697925 113697925 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:113697925G>T ENST00000297405.5 - 15 2436 c.2192C>A c.(2191-2193)aCa>aAa p.T731K CSMD3_ENST00000352409.3_Missense_Mutation_p.T731K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T691K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T627K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 731 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGAAAGAACTGTTCCCATTGG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 81 2.4624e-09 4.23573e-09 1 1 0 TENM1 10178 broad.mit.edu 37 X 123805641 123805641 + Missense_Mutation SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:123805641C>T ENST00000422452.2 - 6 1123 c.1060G>A c.(1060-1062)Gga>Aga p.G354R TENM1_ENST00000371130.3_Missense_Mutation_p.G354R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TACAGCTCTCCTTCAACTGGT 0.448000 30 136 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425995 179425995 + Silent SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:179425995A>T ENST00000589042.1 - 326 85088 c.84864T>A c.(84862-84864)atT>atA p.I28288I TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.I19223I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I19415I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I26647I|TTN_ENST00000359218.5_Silent_p.I19348I|TTN_ENST00000342992.6_Silent_p.I25720I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26647 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCGTTCAACAATGTATCCTG 0.393000 5 66 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121742294 121742294 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:121742294G>C ENST00000452319.1 + 12 1991 c.1931G>C c.(1930-1932)aGa>aCa p.R644T GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R316T|GLI2_ENST00000361492.4_Missense_Mutation_p.R644T P10070 GLI2_HUMAN GLI family zinc finger 2 644 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CTGCACGTCAGAGCCATCAAG 0.682000 7 28 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26695106 26695106 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:26695106A>G ENST00000529632.2 + 5 1515 c.1319A>G c.(1318-1320)cAc>cGc p.H440R SEZ6L_ENST00000402979.1_Missense_Mutation_p.H213R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.H440R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.H440R|SEZ6L_ENST00000403121.1_Missense_Mutation_p.H213R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.H440R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.H440R NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 440 Sushi 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TCCAAGCCGCACTGGAGCAGC 0.587000 10 11 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1670167 1670167 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:1670167C>T ENST00000252804.4 - 10 1160 c.1110G>A c.(1108-1110)ccG>ccA p.P370P PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 370 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGATCCGCGGCGGGGGGTGGC 0.607000 4 30 0 0 1 0 0 LAX1 54900 broad.mit.edu 37 1 203743032 203743032 + Silent SNP G G A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:203743032G>A ENST00000442561.2 + 5 810 c.420G>A c.(418-420)gaG>gaA p.E140E LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.E124E NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 140 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTTCCAGGAGCATACAGCCC 0.527000 9 39 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157182363 157182363 + Missense_Mutation SNP T T A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:157182363T>A ENST00000339562.4 - 8 2052 c.1690A>T c.(1690-1692)Acc>Tcc p.T564S NR4A2_ENST00000539077.1_Missense_Mutation_p.T575S|NR4A2_ENST00000426264.1_Missense_Mutation_p.T501S|NR4A2_ENST00000409572.1_Missense_Mutation_p.T564S|NR4A2_ENST00000429376.1_Missense_Mutation_p.Y466F|NR4A2_ENST00000409108.2_Missense_Mutation_p.Y529F NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 564 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 GTGCAAAGGGTACGAAGTTCT 0.468000 18 74 0 0 1 0 0 OGFOD2 79676 broad.mit.edu 37 12 123463485 123463485 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:123463485C>T ENST00000397389.2 + 7 1276 c.537C>T c.(535-537)gcC>gcT p.A179A ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000228922.7_Silent_p.A239A|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538755.1_Silent_p.A75A|OGFOD2_ENST00000536150.1_Silent_p.A75A|OGFOD2_ENST00000454694.2_Silent_p.A75A|OGFOD2_ENST00000545612.1_Silent_p.A75A|OGFOD2_ENST00000545317.1_Silent_p.A75A|OGFOD2_ENST00000538628.1_Silent_p.A75A NM_024623.1 NP_078899.1 Q6N063 OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 2 239 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(2)|lung(4)|pancreas(1) 8 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) ATGATAATGCCGAGCTCACCC 0.642000 12 34 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 1009688 1009688 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:1009688G>T ENST00000537687.1 + 26 7918 c.7275G>T c.(7273-7275)caG>caT p.Q2425H WNK1_ENST00000535572.1_Missense_Mutation_p.Q1917H|WNK1_ENST00000530271.2_Missense_Mutation_p.Q2663H|WNK1_ENST00000315939.6_Missense_Mutation_p.Q2165H|WNK1_ENST00000340908.4_Missense_Mutation_p.Q1758H NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2165 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACCCCCAGCAGACCCTCCACC 0.542000 20 154 1.01871e-10 1.81975e-10 1 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57866468 57866468 + Nonstop_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:57866468C>A ENST00000424809.2 - 16 2147 c.1922G>T c.(1921-1923)tGa>tTa p.*641L ARHGAP9_ENST00000393791.3_Silent_p.V676V|ARHGAP9_ENST00000393797.2_Silent_p.V766V|ARHGAP9_ENST00000430041.2_Silent_p.V492V|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Silent_p.V695V NM_001080157.1 NP_001073626.1 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 0 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) AGTGTGCTATCACCCTGTAAG 0.498000 11 33 3.07112e-06 4.41143e-06 1 1 0 OR5H6 79295 broad.mit.edu 37 3 97983296 97983296 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr3:97983296G>T ENST00000383696.2 + 1 209 c.168G>T c.(166-168)atG>atT p.M56I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCACCATCATGGGGAATCTTG 0.408000 44 240 9.14704e-12 1.68435e-11 1 1 0 ALG10 84920 broad.mit.edu 37 12 34179118 34179118 + Silent SNP C C T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr12:34179118C>T ENST00000266483.2 + 3 1009 c.690C>T c.(688-690)ttC>ttT p.F230F ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 230 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TTGCAGAATTCAGAAAAATTC 0.388000 21 177 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17126432 17126432 + Silent SNP C C A rs112672544 byFrequency TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:17126432C>A ENST00000377833.4 - 17 2204 c.2139G>T c.(2137-2139)acG>acT p.T713T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 713 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTCTGGGTCCGTGTAGTTCC 0.517000 4 26 0.00909568 0.00987531 1 1 0 RYR3 6263 broad.mit.edu 37 15 33988555 33988555 + Silent SNP G G A rs142550033 by1000genomes TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:33988555G>A ENST00000389232.4 + 39 6067 c.5997G>A c.(5995-5997)gcG>gcA p.A1999A RYR3_ENST00000415757.3_Silent_p.A1999A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1999 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.A1999A(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCTGCAGGCGCTGCGGAAGA 0.602000 12 66 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671780 45671780 + Missense_Mutation SNP G G C TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:45671780G>C ENST00000308064.2 - 4 1364 c.694C>G c.(694-696)Ctg>Gtg p.L232V NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 232 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TCTCGGACCAGCTGGATGACC 0.667000 9 57 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675802 21675802 + Silent SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:21675802G>T ENST00000379499.2 - 1 646 c.105C>A c.(103-105)acC>acA p.T35T NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 35 BTB. cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CGCTGCCCTCGGTCTCCAGTG 0.657000 3 17 1 1 1 1 0 MGAM 8972 broad.mit.edu 37 7 141752783 141752783 + Splice_Site SNP A A T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:141752783A>T ENST00000475668.2 + 26 3212 c.3159_splice c.e26+1 p.K1053_splice MGAM_ENST00000549489.2_Splice_Site_p.K1053_splice O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1053 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGCAGTTCAAGGTAAACACA 0.428000 21 30 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058632 112058632 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:112058632C>A ENST00000371959.3 - 2 1345 c.1346G>T c.(1345-1347)aGg>aTg p.R449M AMOT_ENST00000371958.1_Missense_Mutation_p.R217M|AMOT_ENST00000371962.1_Missense_Mutation_p.R217M|AMOT_ENST00000304758.1_Missense_Mutation_p.R40M|AMOT_ENST00000524145.1_Missense_Mutation_p.R449M NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 449 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CAACTCTTGCCTCAAGTTCCG 0.488000 43 241 7.05121e-23 1.48111e-22 1 1 0 STK11 6794 broad.mit.edu 37 19 1207162 1207162 + Nonsense_Mutation SNP A A T rs137853076 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:1207162A>T ENST00000326873.7 + 1 1423 c.250A>T c.(250-252)Aag>Tag p.K84* STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 84 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGAAGAAGAAGTTGCGAAG 0.617000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 3 18 0 0 1 0 0 IPMK 253430 broad.mit.edu 37 10 59955929 59955929 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr10:59955929C>G ENST00000373935.3 - 6 1481 c.1159G>C c.(1159-1161)Gct>Cct p.A387P NM_152230.4 NP_689416.1 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 387 nucleus ATP binding|inositol trisphosphate 6-kinase activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 AACACATGAGCAAAATCTATC 0.368000 28 149 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3405445 3405445 + RNA SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr11:3405445C>A ENST00000529482.1 + 0 218 GTCCCATGACCAGGGCCAGAT 0.547000 4 5 0.00909568 0.00987531 1 1 0 AMELX 265 broad.mit.edu 37 X 11316773 11316773 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:11316773C>A ENST00000380712.3 + 6 360 c.292C>A c.(292-294)Cac>Aac p.H98N ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.H84N|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.H68N|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 84 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 GCCTCATCACCACATCCCAGT 0.602000 19 142 2.94398e-08 4.86397e-08 1 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236912 140236912 + Missense_Mutation SNP C C G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:140236912C>G ENST00000307360.5 + 1 1279 c.1279C>G c.(1279-1281)Cgg>Ggg p.R427G PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427G|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACCGCGCGGGACGGGGG 0.647000 22 168 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287667 16287667 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr22:16287667C>A ENST00000343518.6 - 1 270 c.219G>T c.(217-219)agG>agT p.R73S NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 73 p.R73R(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGCCGCTCCCCCTGCACCAGG 0.577000 26 678 1.08312e-15 2.15592e-15 1 1 0 LSM11 134353 broad.mit.edu 37 5 157182271 157182271 + Nonstop_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:157182271G>T ENST00000286307.5 + 4 1138 c.1082G>T c.(1081-1083)tGa>tTa p.*361L NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 0 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTGCACAGTGACCAGCTCAG 0.438000 6 37 0.00116845 0.0013492 1 1 0 CCKAR 886 broad.mit.edu 37 4 26491794 26491794 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr4:26491794C>A ENST00000295589.3 - 1 290 c.96G>T c.(94-96)caG>caT p.Q32H NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 32 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AAGGACGGGGCTGATCCAAGC 0.448000 4 14 2.56e-06 3.71556e-06 1 1 0 SYPL2 284612 broad.mit.edu 37 1 110020608 110020608 + Missense_Mutation SNP A A G TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:110020608A>G ENST00000369872.3 + 5 841 c.625A>G c.(625-627)Atg>Gtg p.M209V SYPL2_ENST00000401021.3_Intron NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 209 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CACGCCCTCTATGGGCCTGGC 0.637000 6 29 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90020380 90020380 + Missense_Mutation SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:90020380C>A ENST00000268122.4 - 8 1238 c.1170G>T c.(1168-1170)caG>caT p.Q390H RHCG_ENST00000544600.1_Missense_Mutation_p.Q390H NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 390 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GGAACTTTCCCTGTGTTCTTG 0.582000 11 88 3.86212e-05 4.96728e-05 1 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6082017 6082017 + Missense_Mutation SNP G G T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr4:6082017G>T ENST00000409021.3 - 7 1573 c.1124C>A c.(1123-1125)gCg>gAg p.A375E JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A375E|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.A210E|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A375E|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.A210E NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 375 Mediates interaction with TYK2 and GABBR1. A -> V (in a colorectal cancer sample; somatic mutation). protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding p.A375V(1) NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTTCAGAGACGCCTGCGCTGA 0.582000 6 32 3.09899e-07 4.76241e-07 1 1 0 ANKRD20A12P 100874392 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 5 10 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176668542 176668543 + Frame_Shift_Ins INS - - G rs116668628 by1000genomes TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:176668542_176668543insG ENST00000367662.3 + 8 4217_4218 c.3053_3054insG c.(3052-3054)tggfs p.W1018fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1018 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGAAGGTGTCGGGGGTGAAAG 0.535 34 143 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 7 82 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54115932 54115932 + Frame_Shift_Del DEL C C - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:54115932delC ENST00000404125.1 - 38 4369 c.4314delG c.(4312-4314)cgfs p.R1438fs PSME4_ENST00000421748.2_Frame_Shift_Del_p.R582fs NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1438 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGTGAAGTTTCCGGGGATCTC 0.343 15 71 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 2 4 --- --- --- --- LOC102724332 102724332 broad.mit.edu 37 2 89161623 89161632 + RNA DEL CGTCTATGGC CGTCTATGGC - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:89161623_89161632delCGTCTATGGC ENST00000430694.1 - 0 523 AATATATTTACGTCTATGGCCTGATGGTTC 0.362 2 4 --- --- --- --- TRIP12 9320 broad.mit.edu 37 2 230683159 230683160 + Frame_Shift_Del DEL AT AT - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr2:230683159_230683160delAT ENST00000283943.5 - 8 1553_1554 c.1375_1376delAT c.(1375-1377)tfs p.I459fs TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.I162fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.I507fs NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 459 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ACACATCTCAATAACTGCCTGA 0.406 14 127 --- --- --- --- GTF2H2B 653238 broad.mit.edu 37 5 69715976 69715977 + RNA INS - - T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr5:69715976_69715977insT ENST00000513202.1 + 0 108 NR_033417.1 CTGGCATTCCATTTTTTTTTAC 0.238 5 7 --- --- --- --- C7orf31 136895 broad.mit.edu 37 7 25218801 25218808 + Frame_Shift_Del DEL CTGAGGCA CTGAGGCA - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:25218801_25218808delCTGAGGCA ENST00000409280.1 - 2 428_435 c.120_127delTGCCTCAG c.(118-129)acagfs p.TASE40fs C7orf31_ENST00000283905.3_Frame_Shift_Del_p.TASE40fs Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 40 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 TACCTGTCCTCTGAGGCAGTTGGGCGAG 0.413 11 63 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48319395 48319396 + Frame_Shift_Del DEL AA AA - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:48319395_48319396delAA ENST00000435803.1 + 18 8628_8629 c.8604_8605delAA c.(8602-8607)agccfs p.RT2868fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2868 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 AAGAAGAGAGAACCAAGAAAGA 0.351 7 84 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA rs71982071 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:65419353_65419354insTTA ENST00000434382.2 + 2 490_491 c.487_488insTTA c.(487-489)tat>TTAtat p.162_163insL VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) GCAGCAGGTTTttattattatt 0.416 5 11 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 2 4 --- --- --- --- TMEM66 51669 broad.mit.edu 37 8 29927535 29927535 + Frame_Shift_Del DEL C C - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:29927535delC ENST00000256255.6 - 3 580 c.323delG c.(322-324)gafs p.G108fs TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 108 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) CACAGTTTTTCCAAATTTGTA 0.333 16 159 --- --- --- --- SNORA25 684959 broad.mit.edu 37 8 140120744 140120744 + RNA DEL C C - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr8:140120744delC ENST00000515935.1 + 0 72 TTGAAGTCTTCCACAGGATGT 0.413 2 4 --- --- --- --- KL 9365 broad.mit.edu 37 13 33590805 33590805 + Frame_Shift_Del DEL C C - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:33590805delC ENST00000380099.3 + 1 235 c.227delC c.(226-228)acfs p.T76fs KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 76 Glycosyl hydrolase-1 1. 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) GCCTACCAGACCGAGGGCGGC 0.726 3 6 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103527950 103527951 + Frame_Shift_Ins INS - - T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr13:103527950_103527951insT ENST00000355739.4 + 15 4681_4682 c.3258_3259insT c.(3256-3261)ggttttfs p.GF1086fs ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.GF319fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CATGCGGTGGATTTTTGGGGGA 0.406 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 63 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75265301 75265302 + Frame_Shift_Ins INS - - T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr14:75265301_75265302insT ENST00000325680.7 + 5 3425_3426 c.3301_3302insT c.(3301-3303)ggafs p.G1101fs YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.G906fs|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 906 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TCAAGGGAGCCAGGACAGGGGT 0.599 13 61 --- --- --- --- ALDH1A3 220 broad.mit.edu 37 15 101425496 101425496 + Frame_Shift_Del DEL G G - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr15:101425496delG ENST00000329841.5 + 2 656 c.124delG c.(124-126)aafs p.E42fs ALDH1A3_ENST00000346623.6_Frame_Shift_Del_p.E42fs|ALDH1A3_ENST00000560555.1_3'UTR NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 42 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) TGAATGGCACGAATCCAAGAG 0.343 7 46 --- --- --- --- HOXB8 3218 broad.mit.edu 37 17 46690737 46690738 + Frame_Shift_Ins INS - - T TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr17:46690737_46690738insT ENST00000239144.4 - 2 792_793 c.558_559insA c.(556-561)acagagfs p.E187fs HOXB8_ENST00000576562.1_Frame_Shift_Ins_p.E186fs|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 187 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 ACCTGTCTCTCTGTCAGTCCCA 0.520 12 101 --- --- --- --- DCC 1630 broad.mit.edu 37 18 51013282 51013282 + Frame_Shift_Del DEL C C - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr18:51013282delC ENST00000442544.2 + 26 4468 c.3852delC c.(3850-3852)ttfs p.F1284fs DCC_ENST00000581580.1_Frame_Shift_Del_p.F919fs|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1284 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTGTGCCATTCCCAACACTCT 0.512 10 118 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 4 7 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 10 178 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099258 56099258 + Frame_Shift_Del DEL C C - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chr20:56099258delC ENST00000426658.2 - 1 665 c.4delG c.(4-6)cafs p.A3fs CTCFL_ENST00000243914.3_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.A3fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 3 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TCAGTGGCTGCCATAATGACT 0.512 53 182 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140993550 140993550 + Frame_Shift_Del DEL G G - TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f6750a-7c68-43c7-bb9e-73349bb5ca37 5e1368d7-e4e9-4de9-b0ec-e9af27c10172 g.chrX:140993550delG ENST00000285879.4 + 4 646 c.360delG c.(358-360)gafs p.E120fs MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 120 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GCCCTCCTGAGGGTGAGGATG 0.522 HNSCC(15;0.026) 28 166 --- --- --- ---