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 CRYBG3 131544 broad.mit.edu 37 3 97598917 97598917 + Missense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:97598917G>T ENST00000182096.4 + 3 1197 c.1133G>T c.(1132-1134)gGa>gTa p.G378V NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TTTCCAAATGGAGTTCTAATA 0.308000 4 133 0.00024832 0.000257871 1 1 0 GRM1 2911 broad.mit.edu 37 6 146625874 146625874 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr6:146625874G>C ENST00000392299.2 + 4 1548 c.1078G>C c.(1078-1080)Gac>Cac p.D360H GRM1_ENST00000492807.2_Missense_Mutation_p.D360H|GRM1_ENST00000355289.4_Missense_Mutation_p.D360H|GRM1_ENST00000282753.1_Missense_Mutation_p.D360H|GRM1_ENST00000507907.1_Missense_Mutation_p.D360H|GRM1_ENST00000361719.2_Missense_Mutation_p.D360H Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 360 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACTGAGGCTGGACACTAACAC 0.488000 3 47 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74621540 74621540 + Missense_Mutation SNP T T A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:74621540T>A ENST00000354431.4 - 4 775 c.584A>T c.(583-585)tAt>tTt p.Y195F LRRIQ3_ENST00000395089.1_Missense_Mutation_p.Y195F|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.Y87F NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 195 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTCCTCTTCATAGGTTGTTCC 0.234000 5 75 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33990146 33990146 + Silent SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr15:33990146C>T ENST00000389232.4 + 40 6268 c.6198C>T c.(6196-6198)caC>caT p.H2066H RYR3_ENST00000415757.3_Silent_p.H2066H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2066 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity 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) TGGGCATGCACGAGACGGTGA 0.488000 36 40 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70358416 70358416 + Silent SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr15:70358416G>A ENST00000558939.1 - 7 1891 c.514C>T c.(514-516)Ctg>Ttg p.L172L TLE3_ENST00000559048.1_Silent_p.L177L|TLE3_ENST00000557997.1_Silent_p.L172L|TLE3_ENST00000451782.2_Silent_p.L172L|TLE3_ENST00000558201.1_Silent_p.L178L|TLE3_ENST00000442299.2_Silent_p.L172L|TLE3_ENST00000559929.1_Silent_p.L182L|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000560939.1_Silent_p.L177L|TLE3_ENST00000317509.8_Silent_p.L172L|TLE3_ENST00000557907.1_Silent_p.L172L|TLE3_ENST00000560589.1_Silent_p.L116L|TLE3_ENST00000558379.1_Silent_p.L172L|TLE3_ENST00000539550.1_Silent_p.L116L|TLE3_ENST00000440567.3_Silent_p.L165L NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 172 Gly/Pro-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGGCTGCCCAGGGCGCCCAGT 0.692000 8 21 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21605785 21605785 + Missense_Mutation SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr19:21605785A>G ENST00000392288.2 + 4 433 c.324A>G c.(322-324)atA>atG p.I108M ZNF493_ENST00000596302.1_3'UTR|ZNF493_ENST00000355504.4_5'UTR|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AAAAAGTGATACTGAGAGAAT 0.313000 65 68 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57698434 57698434 + Splice_Site SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr14:57698434C>G ENST00000413566.2 - 11 1298 c.e11-1 EXOC5_ENST00000340918.7_Splice_Site NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 ATTGGTGGTTCTTTTCATGAA 0.303000 5 33 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412941 49412941 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:49412941C>A ENST00000418115.1 - 2 466 c.82G>T c.(82-84)Gac>Tac p.D28Y RHOA_ENST00000454011.2_Missense_Mutation_p.D28Y|RHOA_ENST00000422781.1_Missense_Mutation_p.D28Y NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 28 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GGGAACTGGTCCTTGCTGAAG 0.463000 41 113 6.1244e-12 7.06662e-12 1 1 0 CLMN 79789 broad.mit.edu 37 14 95669794 95669794 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr14:95669794G>C ENST00000298912.4 - 9 2005 c.1892C>G c.(1891-1893)cCt>cGt p.P631R NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 631 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GTCCTGATGAGGTTCATGTTT 0.443000 8 64 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99522207 99522207 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr9:99522207G>A ENST00000375231.1 - 6 1555 c.905C>T c.(904-906)aCt>aTt p.T302I ZNF510_ENST00000223428.4_Missense_Mutation_p.T302I Q9Y2H8 ZN510_HUMAN zinc finger protein 510 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) CCCTGTGCCAGTTCTCCTGTG 0.353000 42 57 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162749902 162749902 + Splice_Site SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:162749902A>G ENST00000367922.3 + 19 2872 c.2434A>G c.(2434-2436)Act>Gct p.T812A DDR2_ENST00000367921.3_Splice_Site_p.T812A NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GTTCCCAAAGACTTACCTCCC 0.428000 12 155 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 62 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21723422 21723422 + Silent SNP T T C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr7:21723422T>C ENST00000328843.6 + 33 5533 c.5502T>C c.(5500-5502)ttT>ttC p.F1834F DNAH11_ENST00000409508.3_Silent_p.F1827F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1834 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCCAAGCTTTTACATGGCTGT 0.423000 Kartagener syndrome 120 143 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252241 145252241 + Silent SNP T T G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:145252241T>G ENST00000377976.1 - 1 290 c.291A>C c.(289-291)gcA>gcC p.A97A NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 97 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GCTGGCCGCCTGCCAAGGTGT 0.517000 5 55 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987887 50987887 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr22:50987887G>A ENST00000395676.2 + 1 1426 c.1292G>A c.(1291-1293)cGc>cAc p.R431H NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 431 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGGACCCCACGCGCGCCACTC 0.672000 33 26 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176011809 176011809 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:176011809G>T ENST00000510636.1 + 19 2801 c.2527G>T c.(2527-2529)Gag>Tag p.E843* CDHR2_ENST00000506348.1_Nonsense_Mutation_p.E843*|CDHR2_ENST00000261944.5_Nonsense_Mutation_p.E843* NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 843 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TGCCCAGCTGGAGATACAGCT 0.612000 5 78 0.184627 0.184627 1 1 0 OSMR 9180 broad.mit.edu 37 5 38904526 38904526 + Silent SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:38904526G>A ENST00000274276.3 + 9 1608 c.1206G>A c.(1204-1206)gcG>gcA p.A402A NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 402 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AGTACATGGCGCGAGTACGGT 0.468000 7 49 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95539414 95539414 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr8:95539414C>G ENST00000297591.5 - 8 1133 c.1058G>C c.(1057-1059)tGt>tCt p.C353S KIAA1429_ENST00000421249.2_Missense_Mutation_p.C353S|KIAA1429_ENST00000437199.1_Missense_Mutation_p.C353S NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 353 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTTGTATGGACAACTGAAGTA 0.383000 7 106 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805631 22805631 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr18:22805631C>G ENST00000361524.3 - 4 2399 c.2251G>C c.(2251-2253)Gtc>Ctc p.V751L ZNF521_ENST00000538137.2_Missense_Mutation_p.V751L|ZNF521_ENST00000584787.1_Missense_Mutation_p.V531L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 751 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CACCTATAGACTTTCTTTTCG 0.468000 T PAX5 ALL 8 19 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343366 248343366 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:248343366C>T ENST00000359682.2 + 1 79 c.79C>T c.(79-81)Ctc>Ttc p.L27F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACACACGTTCCTCTTCTTTCT 0.493000 90 105 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20530608 20530608 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr4:20530608G>A ENST00000504154.1 + 16 1751 c.1499G>A c.(1498-1500)tGc>tAc p.C500Y SLIT2_ENST00000273739.5_Missense_Mutation_p.C504Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.C496Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.C492Y NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 500 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGTGGAGACTGCTTTGCGGAT 0.388000 4 109 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103006643 103006643 + Nonsense_Mutation SNP T T G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:103006643T>G ENST00000409599.1 + 10 1433 c.1077T>G c.(1075-1077)taT>taG p.Y359* IL18R1_ENST00000233957.1_Nonsense_Mutation_p.Y359* Q13478 IL18R_HUMAN interleukin 18 receptor 1 359 innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TTCTATTTTATAGACATTTAA 0.343000 29 27 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176838029 176838029 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:176838029C>T ENST00000367654.3 - 22 3833 c.3622G>A c.(3622-3624)Gag>Aag p.E1208K ASTN1_ENST00000367657.3_Missense_Mutation_p.E1200K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1200K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E1200K NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCAAAACTCTCATAGTGCTGG 0.478000 4 104 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83402613 83402613 + Missense_Mutation SNP T T C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:83402613T>C ENST00000296591.5 - 6 923 c.505A>G c.(505-507)Ata>Gta p.I169V EDIL3_ENST00000380138.3_Missense_Mutation_p.I159V NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 169 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TGGTTTGATATAATTCCACCT 0.388000 51 39 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62855780 62855780 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr17:62855780G>A ENST00000584306.1 - 11 5014 c.4484C>T c.(4483-4485)gCt>gTt p.A1495V LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A533V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1495V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A613V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A472V NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1495 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GATAACATGAGCAATGAGCCT 0.522000 5 216 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40692965 40692965 + Silent SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:40692965A>G ENST00000298910.7 + 25 3460 c.3402A>G c.(3400-3402)ttA>ttG p.L1134L LRRK2_ENST00000343742.2_Silent_p.L1134L NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1134 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGAAGATTTTAAACCTTAGTA 0.353000 47 32 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730190 140730190 + Silent SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:140730190A>G ENST00000523390.1 + 1 363 c.363A>G c.(361-363)caA>caG p.Q121Q PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTAATCCAAGATATTAATG 0.423000 5 65 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101302 80101302 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:80101302G>A ENST00000466387.1 + 10 1410 c.686G>A c.(685-687)cGc>cAc p.R229H CTNNA2_ENST00000540488.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R229H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R263H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R229H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R229H P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 229 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R229H(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCATTTCTCCGCCACCCAGAT 0.572000 3 45 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168319521 168319521 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr6:168319521C>T ENST00000366806.2 + 20 2937 c.2795C>T c.(2794-2796)cCg>cTg p.P932L MLLT4_ENST00000344191.4_Missense_Mutation_p.P932L|MLLT4_ENST00000392108.3_Missense_Mutation_p.P932L|MLLT4_ENST00000447894.2_Missense_Mutation_p.P932L|MLLT4_ENST00000392112.1_Missense_Mutation_p.P916L|MLLT4_ENST00000351017.4_Missense_Mutation_p.P939L|MLLT4_ENST00000400822.3_Missense_Mutation_p.P931L P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 932 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding p.P932L(1)|p.P916L(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGCAGCTGCCGTTTCTTTTG 0.448000 T MLL AL 26 27 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 4 98 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105207606 105207606 + Missense_Mutation SNP T T G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr7:105207606T>G ENST00000257700.2 + 15 2458 c.2227T>G c.(2227-2229)Tct>Gct p.S743A EFCAB10_ENST00000490493.1_5'UTR|EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000485614.1_Intron|EFCAB10_ENST00000486180.1_3'UTR NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 743 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GAACGTCGGTTCTGCACTACT 0.398000 5 78 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668330 59668330 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr17:59668330C>T ENST00000521764.1 - 1 233 c.212G>A c.(211-213)cGg>cAg p.R71Q NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 71 NAC-A/B. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) CTTTTCACTCCGACTCTGTTT 0.458000 7 170 0 0 1 0 0 PARS2 25973 broad.mit.edu 37 1 55224597 55224597 + Missense_Mutation SNP T T A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:55224597T>A ENST00000371279.3 - 2 320 c.238A>T c.(238-240)Atc>Ttc p.I80F NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 80 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) GCTGGGTAGAtcaggcccacc 0.602000 8 27 0 0 1 0 0 TIMM17A 10440 broad.mit.edu 37 1 201926494 201926494 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:201926494C>T ENST00000367287.4 + 2 148 c.112C>T c.(112-114)Cgc>Tgc p.R38C NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) 38 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.R38C(1) kidney(1)|lung(3)|stomach(1) 5 CAAAGGTTTTCGCAATTCTCC 0.453000 23 37 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206607956 206607956 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:206607956C>T ENST00000360409.3 + 9 2112 c.1321C>T c.(1321-1323)Ctc>Ttc p.L441F NRP2_ENST00000357785.5_Missense_Mutation_p.L441F|NRP2_ENST00000540178.1_Missense_Mutation_p.L441F|NRP2_ENST00000272849.3_Missense_Mutation_p.L441F|NRP2_ENST00000540841.1_Missense_Mutation_p.L441F|NRP2_ENST00000417189.1_Missense_Mutation_p.L441F|NRP2_ENST00000412873.2_Missense_Mutation_p.L441F|NRP2_ENST00000357118.4_Missense_Mutation_p.L441F|NRP2_ENST00000355117.4_Missense_Mutation_p.L441F NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 441 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GCTGGGGATGCTCTCAGGCCT 0.597000 28 102 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25472257 25472257 + RNA SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr15:25472257G>T ENST00000453082.2 + 0 1238 SNORD115-31_ENST00000365318.1_RNA NR_003343.1 CCCTGGGTTGGGTCAGTGATG 0.527000 6 185 2.0095e-06 2.22362e-06 1 1 0 UACA 55075 broad.mit.edu 37 15 70991872 70991872 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr15:70991872C>A ENST00000322954.6 - 2 391 c.206G>T c.(205-207)aGa>aTa p.R69I UACA_ENST00000379983.2_Missense_Mutation_p.R56I|UACA_ENST00000560441.1_Missense_Mutation_p.R56I|UACA_ENST00000539319.1_Missense_Mutation_p.R69I NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 69 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TTACACAGATCTGCCTTCCAC 0.393000 4 68 3.59834e-05 3.825e-05 1 1 0 LRRN4 164312 broad.mit.edu 37 20 6022069 6022069 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr20:6022069G>A ENST00000378858.4 - 5 2046 c.1822C>T c.(1822-1824)Cat>Tat p.H608Y NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 608 Fibronectin type-III. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 TGGTACCCATGCACTACCGAG 0.687000 7 40 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 7 210 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2977901 2977901 + Missense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:2977901G>T ENST00000342628.2 - 4 787 c.674C>A c.(673-675)cCa>cAa p.P225Q FOXM1_ENST00000361953.3_Missense_Mutation_p.P225Q|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000359843.3_Missense_Mutation_p.P225Q NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 225 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGACGCTGATGGTCTCGAAGG 0.517000 14 56 9.31168e-06 1.00566e-05 1 1 0 PLRG1 5356 broad.mit.edu 37 4 155458437 155458437 + Splice_Site SNP C C A rs1134692 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr4:155458437C>A ENST00000499023.2 - 14 1612 c.e14+1 PLRG1_ENST00000302078.5_Splice_Site|PLRG1_ENST00000393905.2_Splice_Site NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) ACAGAACTTACGGCTGTGTCA 0.328000 19 20 8.00594e-06 8.71614e-06 1 1 0 ELF3 1999 broad.mit.edu 37 1 201984374 201984374 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:201984374G>A ENST00000359651.3 + 8 4231 c.1039G>A c.(1039-1041)Ggc>Agc p.G347S ELF3_ENST00000367283.3_Missense_Mutation_p.G347S|ELF3_ENST00000367284.5_Missense_Mutation_p.G347S|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 347 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 ACGGGTGGATGGCCGGCGACT 0.572000 19 38 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155278371 155278371 + Splice_Site SNP T T A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr4:155278371T>A ENST00000357232.4 - 6 799 c.800A>T c.(799-801)aAg>aTg p.K267M DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) taacctctacttgaagtgcct 0.398000 7 163 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70502265 70502265 + Silent SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:70502265C>G ENST00000433351.2 + 4 697 c.669C>G c.(667-669)gtC>gtG p.V223V PCYOX1_ENST00000264441.5_Silent_p.V223V|PCYOX1_ENST00000505044.2_Silent_p.V146V|PCYOX1_ENST00000545138.1_Silent_p.V145V NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 223 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 TTATGAGGGTCAATTATGGCC 0.458000 4 135 0 0 1 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37785805 37785805 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr17:37785805C>G ENST00000254079.4 + 3 624 c.155C>G c.(154-156)tCc>tGc p.S52C PPP1R1B_ENST00000394265.1_Missense_Mutation_p.S16C|PPP1R1B_ENST00000579000.1_Intron|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.S16C|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.S52C NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B 52 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GAGGAAGCCTCCCCCCACCAG 0.582000 12 50 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37756913 37756913 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr8:37756913G>A ENST00000330843.4 - 1 59 c.47C>T c.(46-48)tCc>tTc p.S16F RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S16F|RAB11FIP1_ENST00000522727.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 16 C2. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GTGGGTTGGGGACCACACGGC 0.706000 4 16 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346541 11346541 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:11346541G>A ENST00000304623.8 - 9 1760 c.1571C>T c.(1570-1572)cCg>cTg p.P524L CTNND2_ENST00000503622.1_Missense_Mutation_p.P187L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P524L|CTNND2_ENST00000511377.1_Missense_Mutation_p.P433L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.P91L NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 524 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 GCCTTCAGGCGGGAGAGCAGG 0.542000 47 51 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 274976 274976 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:274976C>T ENST00000538872.1 + 11 3009 c.2891C>T c.(2890-2892)tCg>tTg p.S964L IQSEC3_ENST00000326261.4_Missense_Mutation_p.S964L|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S661L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 964 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCCTGGGCTCGGACGAGATG 0.582000 27 13 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr17:7577105G>C ENST00000420246.2 - 8 965 c.833C>G c.(832-834)cCt>cGt p.P278R TP53_ENST00000359597.4_Missense_Mutation_p.P278R|TP53_ENST00000269305.4_Missense_Mutation_p.P278R|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278R|TP53_ENST00000445888.2_Missense_Mutation_p.P278R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GTCTCTCCCAGGACAGGCACA 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) 20 1 0 0 1 0 0 MCAM 4162 broad.mit.edu 37 11 119183299 119183299 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:119183299G>A ENST00000392814.1 - 2 1375 c.646C>T c.(646-648)Cgc>Tgc p.R216C MCAM_ENST00000264036.4_Missense_Mutation_p.R267C P43121 MUC18_HUMAN melanoma cell adhesion molecule 267 Ig-like V-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ATTTCCACGCGGTCCCCTTCC 0.577000 18 62 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777276 18777276 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr9:18777276C>T ENST00000380548.4 + 19 3388 c.3049C>T c.(3049-3051)Ccg>Tcg p.P1017S NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1017 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GGCCGCCAACCCGGGGAGCCG 0.701000 16 11 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150387209 150387209 + Missense_Mutation SNP C C G rs143964947 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:150387209C>G ENST00000295910.6 - 12 1425 c.1373G>C c.(1372-1374)cGa>cCa p.R458P FAM194A_ENST00000491361.1_Missense_Mutation_p.R312P NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 458 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTTGGGCACTCGAATGATGGC 0.413000 41 47 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57608973 57608973 + Silent SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr16:57608973G>T ENST00000340339.4 + 11 1978 c.1455G>T c.(1453-1455)ctG>ctT p.L485L GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.L485L NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 485 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 TGCCCCAGCTGTTCCTCTTCA 0.602000 11 29 0.000978159 0.00100803 1 1 0 PATZ1 23598 broad.mit.edu 37 22 31738908 31738908 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr22:31738908G>A ENST00000266269.5 - 2 1939 c.1310C>T c.(1309-1311)aCt>aTt p.T437I PATZ1_ENST00000405309.3_Missense_Mutation_p.T437I|PATZ1_ENST00000351933.4_Missense_Mutation_p.T437I|PATZ1_ENST00000215919.3_Missense_Mutation_p.T437I NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 437 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CCGCTCAGAAGTGTGCACCTG 0.562000 6 67 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103090312 103090312 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:103090312G>A ENST00000295269.4 + 1 551 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 32 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TGATTTGAATGAATCTGCAAA 0.448000 4 171 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90046431 90046431 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:90046431C>T ENST00000405460.2 + 53 11134 c.11038C>T c.(11038-11040)Cgc>Tgc p.R3680C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3680 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAACGTTGAACGCTTAAAAGG 0.383000 26 73 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602906 13602906 + Missense_Mutation SNP C C T rs34471245 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr4:13602906C>T ENST00000040738.5 - 10 5753 c.5618G>A c.(5617-5619)aGt>aAt p.S1873N NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1873 DNA binding TCTTCCAGTACTAGTCACAAC 0.463000 14 47 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54028857 54028857 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:54028857G>C ENST00000185150.4 + 8 888 c.757G>C c.(757-759)Gca>Cca p.A253P GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.A253P|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.A253P|ASB3_ENST00000498475.2_Intron NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 253 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 CAGGTTCAGAGCATCTCCTGT 0.413000 20 65 0 0 1 0 0 HMGCS1 3157 broad.mit.edu 37 5 43293062 43293062 + Missense_Mutation SNP A A T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:43293062A>T ENST00000325110.6 - 9 1403 c.1197T>A c.(1195-1197)gaT>gaA p.D399E HMGCS1_ENST00000433297.2_Missense_Mutation_p.D399E NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 399 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 CTGTTATTTTATCAAGAGCAG 0.353000 7 139 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21175923 21175923 + Missense_Mutation SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr13:21175923A>G ENST00000382778.4 + 13 2037 c.919A>G c.(919-921)Ata>Gta p.I307V IFT88_ENST00000319980.6_Missense_Mutation_p.I307V|IFT88_ENST00000351808.5_Missense_Mutation_p.I298V|IFT88_ENST00000537103.1_Missense_Mutation_p.I279V Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 307 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) ATATGAGCACATAATGAGCAT 0.343000 9 39 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921416 24921416 + Silent SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr15:24921416G>A ENST00000329468.2 + 1 876 c.402G>A c.(400-402)gcG>gcA p.A134A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GTGAGCCGGCGGTCAAGGCCA 0.632000 15 27 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33509215 33509215 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr20:33509215G>A ENST00000360596.2 + 11 1571 c.1360G>A c.(1360-1362)Gta>Ata p.V454I ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.V467I|ACSS2_ENST00000336325.4_Missense_Mutation_p.V404I NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 454 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCACCGGGTGGTAGGTGCCCA 0.607000 20 34 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64537059 64537059 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:64537059C>T ENST00000377390.3 - 6 839 c.502G>A c.(502-504)Gag>Aag p.E168K SF1_ENST00000489544.1_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.E142K|SF1_ENST00000422298.2_Missense_Mutation_p.E53K|SF1_ENST00000227503.9_Missense_Mutation_p.E168K|SF1_ENST00000334944.5_Missense_Mutation_p.E168K|SF1_ENST00000377387.1_Missense_Mutation_p.E293K|SF1_ENST00000377394.3_Missense_Mutation_p.E168K NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 168 KH. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CACTCCTTCTCTATGTTCTTC 0.478000 53 73 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42464511 42464511 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr22:42464511C>G ENST00000396398.3 - 2 616 c.84G>C c.(82-84)atG>atC p.M28I NAGA_ENST00000403363.1_Missense_Mutation_p.M28I|NAGA_ENST00000402937.1_Missense_Mutation_p.M28I NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 28 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CCAGCCAGCCCATGGGTGGTG 0.572000 13 61 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670021 95670021 + Nonsense_Mutation SNP A A T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr14:95670021A>T ENST00000298912.4 - 9 1778 c.1665T>A c.(1663-1665)taT>taA p.Y555* NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 555 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TGGCTTCAAAATAGTCTCCCT 0.433000 31 49 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327055 152327055 + Silent SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:152327055A>G ENST00000388718.5 - 3 3279 c.3207T>C c.(3205-3207)tcT>tcC p.S1069S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1069 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACGTGATCTAGACTCATATT 0.473000 8 397 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573467 140573467 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:140573467G>A ENST00000239446.4 + 1 1526 c.1342G>A c.(1342-1344)Gcc>Acc p.A448T NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 448 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATGACAACGCCCCCGCCTT 0.597000 5 88 0 0 1 0 0 SH2D6 284948 broad.mit.edu 37 2 85663644 85663644 + Missense_Mutation SNP T T C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:85663644T>C ENST00000389938.2 + 20 1685 c.371T>C c.(370-372)cTt>cCt p.L124P SH2D6_ENST00000340326.2_Missense_Mutation_p.L156P|SH2D6_ENST00000481426.2_3'UTR Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 156 SH2. central_nervous_system(1)|lung(2) 3 CCTCTGCCCCTTGTGGACAGA 0.637000 21 16 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186099685 186099685 + Silent SNP A A C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:186099685A>C ENST00000271588.4 + 85 13315 c.13086A>C c.(13084-13086)ccA>ccC p.P4362P HMCN1_ENST00000367492.2_Silent_p.P4362P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4362 Ig-like C2-type 43. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGATTGAACCACTTGGTGGGA 0.418000 42 61 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318532 71318532 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:71318532C>A ENST00000370932.2 - 3 1318 c.1088G>T c.(1087-1089)tGg>tTg p.W363L PTGER3_ENST00000351052.5_3'UTR|PTGER3_ENST00000370931.3_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.W372L NM_198717.1 NP_942010.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 363 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) TTAATTTCCCCAAAATTCCTC 0.338000 6 201 0.0381472 0.0387209 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201020186 201020186 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:201020186C>T ENST00000362061.3 - 33 4265 c.4039G>A c.(4039-4041)Ggg>Agg p.G1347R CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1328R NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1347 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TACTCCTCCCCTGGGGCATAG 0.562000 31 43 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95657940 95657940 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr14:95657940G>T ENST00000298912.4 - 13 3083 c.2970C>A c.(2968-2970)tgC>tgA p.C990* CLMN_ENST00000556441.1_Nonsense_Mutation_p.C55*|CLMN_ENST00000557215.1_5'UTR NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 990 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) AGAGCAGCAAGCAGTACACCA 0.517000 4 33 0.014758 0.0150934 1 1 0 SRCAP 10847 broad.mit.edu 37 16 30715473 30715473 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr16:30715473C>T ENST00000262518.4 + 4 528 c.143C>T c.(142-144)cCg>cTg p.P48L SRCAP_ENST00000344771.4_Missense_Mutation_p.P48L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P48L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 48 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.P48Q(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGCATCTCCCCGCAGCACATA 0.612000 26 54 0 0 1 0 0 PDIK1L 149420 broad.mit.edu 37 1 26448508 26448508 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:26448508C>A ENST00000374271.4 + 4 753 c.466C>A c.(466-468)Cat>Aat p.H156N PDIK1L_ENST00000374269.1_Missense_Mutation_p.H156N NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 156 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTTCTTGCATAAAAACCA 0.458000 6 144 3.59834e-05 3.825e-05 1 1 0 WWC3 55841 broad.mit.edu 37 X 10046915 10046915 + Splice_Site SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chrX:10046915G>A ENST00000380861.4 + 4 688 c.297G>A c.(295-297)agG>agA p.R99R WWC3_ENST00000454666.1_Splice_Site_p.R99R NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 99 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GTCGGGATAGGGTGAGTAAAA 0.438000 8 33 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150712821 150712821 + Silent SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:150712821G>A ENST00000335244.4 - 7 936 c.807C>T c.(805-807)ttC>ttT p.F269F SLC36A2_ENST00000521967.1_Silent_p.F269F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 269 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCTGTTCCGAAGAAGAGAG 0.458000 20 43 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43268275 43268275 + Missense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr19:43268275G>T ENST00000404209.4 - 2 319 c.223C>A c.(223-225)Ctc>Atc p.L75I PSG8_ENST00000401467.2_Missense_Mutation_p.L75I|PSG8_ENST00000306511.4_Missense_Mutation_p.L75I|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 75 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TAATGGTAGAGGTCCCTGATT 0.423000 7 284 1.06961e-07 1.21343e-07 1 1 0 ADCY1 107 broad.mit.edu 37 7 45719327 45719327 + Silent SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr7:45719327C>T ENST00000297323.7 + 11 1940 c.1918C>T c.(1918-1920)Ctg>Ttg p.L640L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 640 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CGTCCTGCTCCTGCTAGTATT 0.567000 14 48 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10207138 10207138 + Missense_Mutation SNP G G A rs147329205 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:10207138G>A ENST00000377157.3 + 18 2907 c.1846G>A c.(1846-1848)Gca>Aca p.A616T UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 861 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.A732T(1)|p.A861T(1) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CCTGGACCCCGCATATCCCGA 0.493000 4 153 0 0 1 0 0 RPE 6120 broad.mit.edu 37 2 210881288 210881288 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:210881288C>G ENST00000359429.6 + 4 497 c.400C>G c.(400-402)Cag>Gag p.Q134E RPE_ENST00000540255.1_Missense_Mutation_p.Q134E|RPE_ENST00000445268.1_Missense_Mutation_p.Q66E|RPE_ENST00000454822.1_Missense_Mutation_p.Q84E|RPE_ENST00000438204.2_Missense_Mutation_p.Q66E|RPE_ENST00000436630.2_Missense_Mutation_p.Q84E|RPE_ENST00000435437.2_Missense_Mutation_p.Q134E|RPE_ENST00000452025.1_Missense_Mutation_p.Q134E|RPE_ENST00000354506.6_Missense_Mutation_p.Q126E|RPE_ENST00000411934.2_Missense_Mutation_p.Q66E|RPE_ENST00000429921.1_Missense_Mutation_p.Q84E|RPE_ENST00000429907.1_Missense_Mutation_p.Q66E NM_199229.1 NP_954699.1 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase 134 pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 9 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) ATGGGCTAATCAGATAGATAT 0.408000 28 54 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73047240 73047240 + RNA SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chrX:73047240G>A ENST00000604411.1 + 0 35201 XIST_ENST00000429829.1_lincRNA NR_003255.2 AAGGTGAGTAGAAAGGGAAGA 0.398000 11 2 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494155 21494155 + Silent SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr20:21494155G>T ENST00000377142.4 - 1 509 c.153C>A c.(151-153)ggC>ggA p.G51G NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 51 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CGTCCAGGGCGCCCTGCCCCA 0.692000 11 22 2.27111e-07 2.555e-07 1 1 0 SLC25A20 788 broad.mit.edu 37 3 48899981 48899981 + Missense_Mutation SNP T T A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:48899981T>A ENST00000319017.4 - 5 727 c.529A>T c.(529-531)Atg>Ttg p.M177L SLC25A20_ENST00000544097.1_Missense_Mutation_p.M127L|SLC25A20_ENST00000430379.1_Missense_Mutation_p.M104L NM_000387.5 NP_000378.1 O43772 MCAT_HUMAN solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 177 carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation integral to membrane|mitochondrial inner membrane acyl carnitine transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) L-Carnitine(DB00583) TTACCTCGCATAAGGGTAAGC 0.527000 14 46 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124399768 124399768 + Silent SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr10:124399768C>T ENST00000338354.3 + 52 6874 c.6768C>T c.(6766-6768)aaC>aaT p.N2256N DMBT1_ENST00000359586.6_Silent_p.N976N|DMBT1_ENST00000330163.4_Silent_p.N1628N|DMBT1_ENST00000344338.3_Silent_p.N2246N|DMBT1_ENST00000368956.2_Silent_p.N1628N|DMBT1_ENST00000368909.3_Silent_p.N2256N|DMBT1_ENST00000368955.3_Silent_p.N2246N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2256 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGACGTGAACATTTCCTTTT 0.473000 35 51 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20216138 20216138 + Missense_Mutation SNP T T A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:20216138T>A ENST00000412997.1 - 6 1236 c.885A>T c.(883-885)aaA>aaT p.K295N SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.K295N|SGOL1_ENST00000412868.1_Missense_Mutation_p.K295N|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.K295N|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 295 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 tagcttttcttttctcttctc 0.284000 4 53 0 0 1 0 0 DUSP3 1845 broad.mit.edu 37 17 41847127 41847127 + Silent SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr17:41847127G>A ENST00000226004.3 - 3 471 c.408C>T c.(406-408)atC>atT p.I136I DUSP3_ENST00000397937.2_Silent_p.I95I NM_004090.3 NP_004081.1 P51452 DUS3_HUMAN dual specificity phosphatase 3 136 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|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|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) TGAGGTAGGCGATAACTAGCG 0.612000 20 16 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112715 59112715 + Silent SNP A A T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr14:59112715A>T ENST00000395153.3 + 4 1410 c.1263A>T c.(1261-1263)ccA>ccT p.P421P DACT1_ENST00000556859.1_Silent_p.P177P|DACT1_ENST00000335867.4_Silent_p.P458P|DACT1_ENST00000541264.2_Silent_p.P177P NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 458 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CGGCCAAGCCAGCCTCGCAAG 0.612000 11 23 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184550478 184550478 + Splice_Site SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:184550478C>G ENST00000287546.4 + 4 395 c.224C>G c.(223-225)aCt>aGt p.T75S VPS8_ENST00000424463.2_Splice_Site_p.T75S|VPS8_ENST00000437079.3_Splice_Site_p.T75S|VPS8_ENST00000436792.2_Splice_Site_p.T75S|VPS8_ENST00000446204.2_Splice_Site_p.T75S NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 75 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) CCAATTTAGACTGATGATGAA 0.343000 6 45 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38691479 38691479 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr4:38691479C>T ENST00000261438.5 + 4 979 c.674C>T c.(673-675)cCc>cTc p.P225L KLF3_ENST00000514033.1_Missense_Mutation_p.P225L NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 225 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 TCAGTGTCCCCCCCGCAAGCA 0.418000 70 94 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228434442 228434442 + Translation_Start_Site SNP A A T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:228434442A>T ENST00000366707.4 + 0 4015 OBSCN_ENST00000570156.2_Missense_Mutation_p.D1416V|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1324V|OBSCN_ENST00000284548.11_Missense_Mutation_p.D1324V Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCAGGCAGATGCTGGGGAG 0.592000 35 60 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729908 62729908 + Missense_Mutation SNP T T C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr20:62729908T>C ENST00000349451.3 + 6 1281 c.869T>C c.(868-870)gTt>gCt p.V290A OPRL1_ENST00000355631.4_Missense_Mutation_p.V290A|OPRL1_ENST00000336866.2_Missense_Mutation_p.V290A NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 290 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GGGCTGGGGGTTCAGCCGAGC 0.647000 35 18 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6692376 6692376 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:6692376G>C ENST00000309577.6 - 26 4211 c.4048C>G c.(4048-4050)Cag>Gag p.Q1350E CHD4_ENST00000544484.1_Missense_Mutation_p.Q1347E|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.Q1343E|CHD4_ENST00000357008.2_Missense_Mutation_p.Q1350E|RP5-940J5.6_ENST00000501075.2_RNA Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1350 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CGGTCCTCCTGGGAGCCATCA 0.582000 5 122 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38902219 38902219 + Silent SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr22:38902219C>A ENST00000396821.3 - 1 123 c.24G>T c.(22-24)ccG>ccT p.P8P DDX17_ENST00000381633.3_5'UTR|DDX17_ENST00000432525.1_Intron NM_001098504.1|NM_006386.4 NP_001091974|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 0 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) CACAGAGAATCGGGGCTACAA 0.657000 2 0 0.0784 0.0789851 1 1 0 HYOU1 10525 broad.mit.edu 37 11 118918677 118918677 + Missense_Mutation SNP T T C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:118918677T>C ENST00000404233.3 - 21 2616 c.2492A>G c.(2491-2493)cAt>cGt p.H831R HYOU1_ENST00000529972.1_Missense_Mutation_p.H769R|HYOU1_ENST00000525859.1_Missense_Mutation_p.H769R NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 831 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CATGCTGGAATGGTTGAGGAG 0.562000 20 19 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50771572 50771572 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr7:50771572C>A ENST00000403097.1 - 4 847 c.67G>T c.(67-69)Gac>Tac p.D23Y GRB10_ENST00000406641.1_5'UTR|GRB10_ENST00000407526.1_5'UTR|GRB10_ENST00000398812.2_Missense_Mutation_p.D29Y|GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000335866.3_5'UTR|GRB10_ENST00000402497.1_5'UTR|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000401949.1_Missense_Mutation_p.D29Y|GRB10_ENST00000439599.1_Missense_Mutation_p.D23Y|GRB10_ENST00000357271.5_Missense_Mutation_p.D29Y Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 29 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CCTGCCGGGTCTTGTTGACTG 0.522000 Russell-Silver syndrome 27 112 7.53681e-25 8.77129e-25 1 1 0 CREB5 9586 broad.mit.edu 37 7 28610119 28610119 + Missense_Mutation SNP T T A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr7:28610119T>A ENST00000357727.2 + 5 818 c.428T>A c.(427-429)gTc>gAc p.V143D CREB5_ENST00000396300.2_Missense_Mutation_p.V136D|CREB5_ENST00000409603.1_Missense_Mutation_p.V110D|CREB5_ENST00000396299.2_Missense_Mutation_p.V110D NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 143 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 TCCAGCTCTGTCATCACTCAG 0.612000 13 36 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865370 140865370 + Silent SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:140865370G>A ENST00000306593.1 + 1 630 c.630G>A c.(628-630)ctG>ctA p.L210L PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTACCGCCTGGTGCTGACTG 0.612000 19 11 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102901240 102901240 + Missense_Mutation SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr14:102901240A>G ENST00000359520.7 + 9 2312 c.2086A>G c.(2086-2088)Aat>Gat p.N696D TECPR2_ENST00000558678.1_Missense_Mutation_p.N696D NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 696 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CCTCAGCACAAATCTCTGGCA 0.572000 4 34 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141114043 141114043 + Missense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr2:141114043G>T ENST00000389484.3 - 75 12369 c.11398C>A c.(11398-11400)Cct>Act p.P3800T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3800 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTCAGTAGGAGCTGGGATT 0.308000 TSP Lung(27;0.18) 6 47 8.12818e-05 8.57269e-05 1 1 0 ANK2 287 broad.mit.edu 37 4 114195742 114195742 + Missense_Mutation SNP G G C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr4:114195742G>C ENST00000357077.4 + 15 1673 c.1620G>C c.(1618-1620)gaG>gaC p.E540D ANK2_ENST00000394537.3_Missense_Mutation_p.E540D|ANK2_ENST00000264366.6_Missense_Mutation_p.E540D|ANK2_ENST00000506722.1_Missense_Mutation_p.E519D NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 540 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGCCCGGGAGGGCCAGGTGG 0.517000 24 79 0 0 1 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55253675 55253675 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr19:55253675C>T ENST00000342376.3 + 3 351 c.320C>T c.(319-321)tCc>tTc p.S107F KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S107F|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTTACTCACTCCCCCTATCAG 0.527000 48 69 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374340 95374340 + RNA SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:95374340G>A ENST00000494840.1 - 0 1521 NR_077228.1 TGGGGTAGCCGGTAACATGGA 0.433000 21 45 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925207 67925207 + Missense_Mutation SNP A A G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:67925207A>G ENST00000304363.4 - 11 2959 c.2606T>C c.(2605-2607)aTt>aCt p.I869T NM_017635.3 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 869 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AGAAATGTCAATATCTATAGA 0.368000 41 33 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113628414 113628414 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:113628414C>T ENST00000200135.3 - 7 1039 c.895G>A c.(895-897)Gta>Ata p.V299I NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 299 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) ACTTCTAGTACCAGTCTGATC 0.318000 41 66 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233508 43233508 + Missense_Mutation SNP A A T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr19:43233508A>T ENST00000327495.5 - 5 1194 c.1010T>A c.(1009-1011)aTt>aAt p.I337N PSG3_ENST00000595140.1_Missense_Mutation_p.I337N NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 337 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGAAGGGTAAATTCTGGGGAG 0.483000 4 184 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132526 48132526 + Missense_Mutation SNP T T C rs147988756 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:48132526T>C ENST00000405493.2 - 25 2556 c.2347A>G c.(2347-2349)Att>Gtt p.I783V RAPGEF3_ENST00000449771.2_Missense_Mutation_p.I825V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.I716V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.I783V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.I825V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.I783V NM_001098532.2|NM_006105.5 NP_001092002|NP_006096 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 783 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CCCTCATGAATGAAGGTCATG 0.488000 22 56 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43191839 43191839 + Missense_Mutation SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr6:43191839C>T ENST00000252050.4 + 40 7375 c.7291C>T c.(7291-7293)Cgg>Tgg p.R2431W CUL9_ENST00000372647.2_Missense_Mutation_p.R2403W|CUL9_ENST00000354495.3_Missense_Mutation_p.R2321W NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 2431 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCAGGATTTCCGGGTTGGTCT 0.577000 50 61 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433441 140433441 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:140433441C>A ENST00000306549.3 + 1 2463 c.2386C>A c.(2386-2388)Ccc>Acc p.P796T NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 796 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCAGTTTGCCCCCAAATTC 0.453000 14 46 2.32078e-09 2.65513e-09 1 1 0 SLC6A7 6534 broad.mit.edu 37 5 149578798 149578798 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr5:149578798G>A ENST00000230671.2 + 5 963 c.592G>A c.(592-594)Gtc>Atc p.V198I SLC6A7_ENST00000524041.1_Missense_Mutation_p.V198I NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 198 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CAGCCGCTACGTCCTCCACAT 0.627000 20 41 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45810804 45810804 + Silent SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr19:45810804G>T ENST00000221476.3 - 7 1056 c.882C>A c.(880-882)ggC>ggA p.G294G NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 294 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) TCACATGCACGCCTCCACGCA 0.607000 17 18 3.32936e-07 3.71457e-07 1 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62856914 62856914 + Missense_Mutation SNP G G T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr17:62856914G>T ENST00000584306.1 - 11 3880 c.3350C>A c.(3349-3351)aCc>aAc p.T1117N LRRC37A3_ENST00000400877.3_Missense_Mutation_p.T155N|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.T1117N|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.T235N|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.T94N NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1117 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TAGTGTACTGGTAACATCACT 0.463000 12 273 5.50884e-06 6.04628e-06 1 1 0 PIBF1 10464 broad.mit.edu 37 13 73539538 73539538 + Missense_Mutation SNP G G A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr13:73539538G>A ENST00000326291.6 + 15 2298 c.1960G>A c.(1960-1962)Gtc>Atc p.V654I NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 654 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TGAGAAAGATGTCAGGTAAAC 0.358000 5 41 0 0 1 0 0 GPER1 2852 broad.mit.edu 37 7 1132273 1132273 + Silent SNP C C T TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr7:1132273C>T ENST00000397092.1 + 3 1793 c.909C>T c.(907-909)ccC>ccT p.P303P C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000297469.3_Silent_p.P303P|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.P303P|GPER1_ENST00000401670.1_Silent_p.P303P NM_001039966.1 NP_001035055.1 G protein-coupled estrogen receptor 1 303 ATGCCCACCCCCTCACGGGCC 0.632000 4 75 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64537455 64537455 + Missense_Mutation SNP C C G TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:64537455C>G ENST00000377390.3 - 5 797 c.460G>C c.(460-462)Ggg>Cgg p.G154R SF1_ENST00000433274.2_Missense_Mutation_p.G128R|SF1_ENST00000422298.2_Missense_Mutation_p.G39R|SF1_ENST00000227503.9_Missense_Mutation_p.G154R|SF1_ENST00000334944.5_Missense_Mutation_p.G154R|SF1_ENST00000377387.1_Missense_Mutation_p.G279R|SF1_ENST00000377394.3_Missense_Mutation_p.G154R NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 154 KH. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 ATGAGCAGCCCCACAAAGTTG 0.473000 26 31 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323384 29323384 + Missense_Mutation SNP A A C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr6:29323384A>C ENST00000377154.1 - 4 888 c.589T>G c.(589-591)Ttg>Gtg p.L197V OR5V1_ENST00000543825.1_Missense_Mutation_p.L197V Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGCAGTGCCAACTCATTGACA 0.448000 34 30 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101016294 101016294 + Silent SNP T T C TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr8:101016294T>C ENST00000360863.6 - 17 2681 c.2487A>G c.(2485-2487)ttA>ttG p.L829L RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Silent_p.L648L|RGS22_ENST00000523437.1_Silent_p.L817L NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 829 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TAGAGAGTGATAAAATGCCAG 0.338000 4 59 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17265129 17265129 + Missense_Mutation SNP C C A TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr22:17265129C>A ENST00000331428.5 - 4 862 c.760G>T c.(760-762)Gca>Tca p.A254S NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 254 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATGAAAAATGCCAGAGTCACT 0.418000 3 40 0.00024832 0.000257871 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118624236 118624257 + Frame_Shift_Del DEL CTCGTTCTACTTCATTCCAGCT CTCGTTCTACTTCATTCCAGCT - TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr1:118624236_118624257delCTCGTTCTACTTCATTCCAGCT ENST00000336338.5 - 14 1836_1857 c.1771_1792delAGCTGGAATGAAGTAGAACGAG c.(1771-1794)agctggaatgaagtagaacgagccfs p.SWNEVERA591fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 591 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACCTTGAAGGCTCGTTCTACTTCATTCCAGCTCAAGACATCT 0.446 17 61 --- --- --- --- SOX2 6657 broad.mit.edu 37 3 181430399 181430399 + Frame_Shift_Del DEL A A - TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr3:181430399delA ENST00000325404.1 + 1 678 c.251delA c.(250-252)gagfs p.E84fs SOX2_ENST00000431565.2_Frame_Shift_Del_p.E84fs NM_003106.3 NP_003097.1 P48431 SOX2_HUMAN SRY (sex determining region Y)-box 2 84 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 10 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) CTTTTGTCGGAGACGGAGAAG 0.622 A """NSCLC, oesophageal squamous carcinoma""" MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 10 50 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 2 4 --- --- --- --- TSFM 10102 broad.mit.edu 37 12 58190132 58190133 + Frame_Shift_Del DEL CC CC - TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr12:58190132_58190133delCC ENST00000454289.3 + 6 957_958 c.744_745delCC c.(742-747)aaccttfs p.L249fs TSFM_ENST00000323833.8_Frame_Shift_Del_p.L270fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000350762.5_Frame_Shift_Del_p.L209fs|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000543727.1_Intron NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 249 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGAAAACAAACCTTGAAGACGT 0.584 14 5 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-ZF-A9RM-01A-11D-A38G-08 TCGA-ZF-A9RM-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8c0c71e-7cb7-4da7-8f9a-367095bb8ad6 b9f39f0b-4819-40d3-9d2e-8c5151d87c47 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---