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 MUC16 94025 broad.mit.edu 37 19 9016709 9016709 + Silent SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr19:9016709G>T ENST00000397910.4 - 28 38231 c.38028C>A c.(38026-38028)tcC>tcA p.S12676S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12678 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCCACTGTGGAGGTCCCAG 0.488000 6 36 0.000157383 0.000163729 1 1 0 EYS 346007 broad.mit.edu 37 6 66204780 66204780 + Missense_Mutation SNP T T G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:66204780T>G ENST00000503581.1 - 4 1061 c.524A>C c.(523-525)cAg>cCg p.Q175P EYS_ENST00000393380.2_Missense_Mutation_p.Q175P|EYS_ENST00000370621.3_Missense_Mutation_p.Q175P|EYS_ENST00000370616.2_Missense_Mutation_p.Q175P|EYS_ENST00000342421.5_Missense_Mutation_p.Q175P|EYS_ENST00000370618.3_Missense_Mutation_p.Q175P NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 175 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CAGAGATTCCTGGCAGAACTG 0.443000 10 50 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2827942 2827942 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:2827942C>A ENST00000381154.1 - 8 1289 c.1214G>T c.(1213-1215)gGc>gTc p.G405V NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 405 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AATCACTCGGCCGGCCGGGAG 0.632000 12 71 0.000151284 0.000159965 1 1 0 EP300 2033 broad.mit.edu 37 22 41565575 41565575 + Missense_Mutation SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr22:41565575A>G ENST00000263253.7 + 26 5460 c.4241A>G c.(4240-4242)tAt>tGt p.Y1414C RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1414 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.Y1414C(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACTGCAGTCTATCATGAAATC 0.333000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 11 34 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35444184 35444184 + Silent SNP T T C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:35444184T>C ENST00000338863.7 - 9 848 c.621A>G c.(619-621)tcA>tcG p.S207S TEAD3_ENST00000402886.3_Silent_p.S147S NM_003214.3 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 207 Pro-rich.|Transcriptional activation (Potential). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 AGGCAGCAGCTGAGGGGAGCG 0.612000 12 118 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559301 228559301 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:228559301C>T ENST00000570156.2 + 105 23767 c.23693C>T c.(23692-23694)cCc>cTc p.P7898L OBSCN_ENST00000422127.1_Missense_Mutation_p.P6941L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4575L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6941 Protein kinase 2. 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) GCCAAAGCCCCCTCATTCGAG 0.721000 5 11 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108076761 108076761 + Silent SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:108076761A>G ENST00000357759.5 + 6 1170 c.756A>G c.(754-756)ccA>ccG p.P252P HHLA2_ENST00000467761.1_Silent_p.P252P|HHLA2_ENST00000467562.1_Silent_p.P188P|HHLA2_ENST00000491820.1_Silent_p.P252P|HHLA2_ENST00000489514.2_Silent_p.P252P NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 252 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 ATTTTTCACCAAACCAAGACT 0.353000 25 102 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 5 54 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182069 140182069 + Silent SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr5:140182069C>T ENST00000522353.2 + 1 1287 c.1287C>T c.(1285-1287)gaC>gaT p.D429D PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.D429D|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTCGGGACGGGGGCTCGC 0.627000 51 180 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83183781 83183781 + Missense_Mutation SNP G G C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr11:83183781G>C ENST00000398309.2 - 18 2488 c.2018C>G c.(2017-2019)aCa>aGa p.T673R DLG2_ENST00000524982.1_Missense_Mutation_p.T669R|DLG2_ENST00000537455.1_Missense_Mutation_p.T423R|DLG2_ENST00000330014.6_Missense_Mutation_p.T594R|DLG2_ENST00000376104.2_Missense_Mutation_p.T778R|DLG2_ENST00000404783.3_Missense_Mutation_p.T151R|DLG2_ENST00000418306.2_Missense_Mutation_p.T552R|DLG2_ENST00000543673.1_Missense_Mutation_p.T778R|DLG2_ENST00000426717.2_Missense_Mutation_p.T137R|DLG2_ENST00000531015.1_Missense_Mutation_p.T640R|DLG2_ENST00000376106.3_Missense_Mutation_p.T137R|DLG2_ENST00000280241.8_Missense_Mutation_p.T712R|DLG2_ENST00000532653.1_Missense_Mutation_p.T655R NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 673 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTCCTGCCTTGTAACAGGCTC 0.433000 15 98 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54552337 54552337 + Missense_Mutation SNP C C G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr5:54552337C>G ENST00000251636.5 - 27 4237 c.4089G>C c.(4087-4089)ttG>ttC p.L1363F RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1363 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) CTGTTTTTATCAATTCCGTAA 0.328000 8 37 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964633 88964633 + Silent SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr7:88964633A>G ENST00000333190.4 + 4 2946 c.2337A>G c.(2335-2337)ccA>ccG p.P779P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 779 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGTCTGAACCACAGAAAGAGA 0.378000 HNSCC(36;0.09) 3 39 0 0 1 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170028 107170028 + RNA SNP C C A rs11557995 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:107170028C>A ENST00000390633.2 - 0 314 CGTGACTCTGCCCTGGAACTT 0.562000 50 437 6.18754e-15 7.45975e-15 1 1 0 PDHA1 5160 broad.mit.edu 37 X 19369504 19369504 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:19369504G>A ENST00000379806.5 + 5 656 c.511G>A c.(511-513)Gaa>Aaa p.E171K PDHA1_ENST00000545074.1_Missense_Mutation_p.E140K|PDHA1_ENST00000540249.1_Missense_Mutation_p.E133K|PDHA1_ENST00000379805.3_Missense_Mutation_p.E133K|PDHA1_ENST00000422285.2_Missense_Mutation_p.E133K NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 133 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) TTCCGTCCGAGAAATTCTCGC 0.478000 9 140 0 0 1 0 0 RRP7A 27341 broad.mit.edu 37 22 42910193 42910193 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr22:42910193G>A ENST00000323013.6 - 6 691 c.676C>T c.(676-678)Ctg>Ttg p.L226L NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 226 nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 TCCCTCTCCAGCACCCGCAAG 0.672000 4 33 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72991446 72991446 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr16:72991446C>A ENST00000268489.5 - 2 3271 c.2599G>T c.(2599-2601)Gcc>Tcc p.A867S ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 867 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATGTTCTGGGCCAGGTAGTAT 0.617000 6 104 0.000157383 0.000163729 1 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138715069 138715069 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr9:138715069C>T ENST00000389532.4 - 11 1502 c.1438G>A c.(1438-1440)Gct>Act p.A480T CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A202T|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A491T NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 480 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CAACTCGCAGCGTGATGTAGA 0.562000 18 94 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835919 12835919 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:12835919G>A ENST00000357726.4 + 2 548 c.521G>A c.(520-522)gGc>gAc p.G174D NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 174 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CAGAGAAAAGGCTTACTGCAC 0.512000 19 145 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97492619 97492619 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr2:97492619G>A ENST00000305510.3 + 3 1447 c.1419G>A c.(1417-1419)aaG>aaA p.K473K CNNM3_ENST00000377060.3_Silent_p.K425K|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 473 ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 CCCCTCTGAAGCGGAAGGAGG 0.547000 25 164 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55212940 55212940 + Silent SNP G G T rs111436406 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr20:55212940G>T ENST00000201031.2 + 7 1467 c.1224G>T c.(1222-1224)gcG>gcT p.A408A TFAP2C_ENST00000544508.1_Silent_p.A239A NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 408 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.A408A(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) TCTGTGCCGCGGTGTCTGCCC 0.527000 39 119 1.7489e-18 2.12838e-18 1 1 0 EMR1 2015 broad.mit.edu 37 19 6919687 6919687 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr19:6919687G>T ENST00000312053.4 + 13 1586 c.1549G>T c.(1549-1551)Ggg>Tgg p.G517W EMR1_ENST00000250572.8_Missense_Mutation_p.G517W|EMR1_ENST00000381407.5_Missense_Mutation_p.G376W|EMR1_ENST00000450315.3_Missense_Mutation_p.G340W|EMR1_ENST00000381404.4_Missense_Mutation_p.G465W NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 517 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCGAGTCGTTGGGGGCATAAT 0.468000 4 116 0.000602214 0.000606919 1 1 0 LBP 3929 broad.mit.edu 37 20 36992685 36992685 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr20:36992685C>T ENST00000217407.2 + 7 870 c.709C>T c.(709-711)Cgg>Tgg p.R237W NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 237 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GGAAGCCCCTCGGGCAACAGC 0.547000 6 72 0 0 1 0 0 UQCRH 7388 broad.mit.edu 37 1 46775912 46775912 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:46775912G>A ENST00000311672.5 + 3 303 c.167G>A c.(166-168)cGt>cAt p.R56H NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 56 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TGTGATGAGCGTGTATCCTCT 0.512000 4 151 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85969636 85969636 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:85969636G>A ENST00000373131.1 + 5 1141 c.978G>A c.(976-978)caG>caA p.Q326Q DACH2_ENST00000508860.1_Silent_p.Q172Q|DACH2_ENST00000373125.4_Silent_p.Q339Q|DACH2_ENST00000510272.1_Silent_p.Q120Q NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CAATGAATCAGATGAACCATC 0.463000 19 105 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22186376 22186376 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:22186376G>A ENST00000374695.3 - 41 5213 c.5134C>T c.(5134-5136)Cgt>Tgt p.R1712C NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1712 Ig-like C2-type 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCATCCTCACGGGACCAATAG 0.652000 12 23 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32305647 32305647 + Splice_Site SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:32305647C>T ENST00000357033.4 - 43 6495 c.6289G>A c.(6289-6291)Ggg>Agg p.G2097R DMD_ENST00000378677.2_Splice_Site_p.G2093R NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2097 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTTACCTACCCTTGTCGGTCC 0.408000 17 79 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154886309 154886309 + Silent SNP C C T rs148809350 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:154886309C>T ENST00000460393.1 + 19 1929 c.1809C>T c.(1807-1809)ctC>ctT p.L603L MME_ENST00000462745.1_Silent_p.L603L|MME_ENST00000492661.1_Silent_p.L603L|MME_ENST00000493237.1_Silent_p.L603L|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.L603L NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 603 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) ATGGAGACCTCGTTGACTGGT 0.378000 7 44 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73932649 73932649 + Missense_Mutation SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr7:73932649A>G ENST00000476977.1 + 5 2293 c.602A>G c.(601-603)aAg>aGg p.K201R GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.K201R|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.K233R|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.K201R Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 201 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTCAAGCTCAAGAGGTGAGTG 0.692000 6 41 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7789895 7789895 + Silent SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr5:7789895C>A ENST00000338316.4 + 20 2699 c.2610C>A c.(2608-2610)gcC>gcA p.A870A ADCY2_ENST00000537121.1_Silent_p.A690A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 870 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACTTCCTGGCCAGGAGCCTGA 0.597000 13 27 0.00010058 0.00010723 1 1 0 ALDH3B2 222 broad.mit.edu 37 11 67433123 67433123 + Missense_Mutation SNP C C G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr11:67433123C>G ENST00000349015.3 - 7 777 c.339G>C c.(337-339)aaG>aaC p.K113N ALDH3B2_ENST00000530069.1_Missense_Mutation_p.K113N NM_000695.3 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 113 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TCATGACAATCTTGCCCACAC 0.647000 189 914 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622261 180622261 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr5:180622261G>A ENST00000393315.1 - 7 1514 c.817C>T c.(817-819)Cgc>Tgc p.R273C TRIM7_ENST00000274773.7_Missense_Mutation_p.R481C|TRIM7_ENST00000393319.3_Missense_Mutation_p.R299C|TRIM7_ENST00000422067.2_Missense_Mutation_p.R273C|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Missense_Mutation_p.R273C NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 481 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TAGAGGTGGCGCATGTCCTCC 0.662000 3 10 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55818508 55818508 + Missense_Mutation SNP A A C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:55818508A>C ENST00000313833.4 + 2 1645 c.1400A>C c.(1399-1401)cAg>cCg p.Q467P FBXO34_ENST00000440021.1_Missense_Mutation_p.Q467P NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 467 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 GACAAAGACCAGCCTTCCATT 0.433000 25 178 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8601310 8601310 + Splice_Site SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr4:8601310G>A ENST00000382480.2 + 2 344 c.e2+1 CPZ_ENST00000360986.4_Intron|CPZ_ENST00000315782.6_Intron|CPZ_ENST00000506287.1_3'UTR NM_001014448.2 NP_001014448 Q66K79 CBPZ_HUMAN carboxypeptidase Z proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GATTTCAGAAGTGGGTAATGG 0.483000 3 11 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43414181 43414181 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr21:43414181G>A ENST00000310826.5 - 3 207 c.24C>T c.(22-24)atC>atT p.I8I ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.I8I|ZBTB21_ENST00000398511.3_Silent_p.I8I|ZBTB21_ENST00000398505.3_Silent_p.I8I NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GTGCAGGGTTGATGTAATGCA 0.443000 44 116 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9489680 9489680 + Missense_Mutation SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:9489680A>G ENST00000402466.1 + 16 2567 c.1799A>G c.(1798-1800)aAa>aGa p.K600R SETD5_ENST00000407969.1_Missense_Mutation_p.K717R|SETD5_ENST00000302463.6_Missense_Mutation_p.K600R|SETD5_ENST00000406341.1_Missense_Mutation_p.K698R|SETD5_ENST00000402198.1_Missense_Mutation_p.K698R|SETD5_ENST00000488236.1_3'UTR Q9C0A6 SETD5_HUMAN SET domain containing 5 698 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AAATACCCCAAAACCAAAAAG 0.433000 3 30 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433142 67433142 + Splice_Site SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr11:67433142C>T ENST00000349015.3 - 7 758 c.320G>A c.(319-321)gGg>gAg p.G107E ALDH3B2_ENST00000530069.1_Splice_Site_p.G107E NM_000695.3 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 107 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) ACGAGGGCTCCCTGGGCGTGG 0.642000 150 777 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873850 91873850 + Nonsense_Mutation SNP A A T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:91873850A>T ENST00000373094.1 + 7 4800 c.3955A>T c.(3955-3957)Aaa>Taa p.K1319* PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.K1309*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.K1282*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.K1311*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.K1301*|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.K1282* NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1319 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TGATTCAATTAAAGTCATTCC 0.453000 35 185 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 152 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25925027 25925027 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr15:25925027G>T ENST00000356865.6 - 21 4072 c.3961C>A c.(3961-3963)Ccc>Acc p.P1321T NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1321 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTCTCTTTGGGAGCACTGCAT 0.572000 22 114 4.35082e-09 5.01121e-09 1 1 0 MDGA1 266727 broad.mit.edu 37 6 37620082 37620082 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:37620082G>A ENST00000297153.7 - 7 2195 c.1017C>T c.(1015-1017)gaC>gaT p.D339D MDGA1_ENST00000434837.3_Silent_p.D339D|MDGA1_ENST00000505425.1_Silent_p.D339D Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 339 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CTTTGATCACGTCAGGAGTGA 0.572000 6 31 0 0 1 0 0 SNRPN 6638 broad.mit.edu 37 15 25223018 25223018 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr15:25223018C>T ENST00000444203.2 + 6 1565 c.526C>T c.(526-528)Cgg>Tgg p.R176W SNRPN_ENST00000554227.2_Missense_Mutation_p.R176W|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400100.1_Missense_Mutation_p.R172W|SNRPN_ENST00000390687.4_Missense_Mutation_p.R172W|SNRPN_ENST00000577565.1_Missense_Mutation_p.R172W|SNRPN_ENST00000400098.1_Missense_Mutation_p.R172W|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R172W|SNRPN_ENST00000346403.6_Missense_Mutation_p.R172W P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 172 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CCCACCAGGACGGGGCACTCC 0.567000 Prader-Willi syndrome 7 33 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327119 30327119 + Missense_Mutation SNP G G C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:30327119G>C ENST00000378970.4 - 1 596 c.362C>G c.(361-363)cCg>cGg p.P121R NR0B1_ENST00000453287.1_Missense_Mutation_p.P121R NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 121 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CCGCCCACCCGGAAGCCCCGC 0.672000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 59 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56438251 56438251 + Missense_Mutation SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr17:56438251A>G ENST00000584437.1 - 6 2697 c.742T>C c.(742-744)Tac>Cac p.Y248H BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.Y207H|RNF43_ENST00000407977.2_Missense_Mutation_p.Y248H|RNF43_ENST00000500597.2_Missense_Mutation_p.Y207H|RNF43_ENST00000581868.1_Missense_Mutation_p.Y121H|RNF43_ENST00000577625.1_Missense_Mutation_p.Y121H|RNF43_ENST00000577716.1_Missense_Mutation_p.Y248H Q68DV7 RNF43_HUMAN ring finger protein 43 248 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGCCTGGTACCTCCTGGTG 0.642000 6 48 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135025014 135025014 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr10:135025014G>A ENST00000304613.3 + 22 4018 c.3997G>A c.(3997-3999)Gtg>Atg p.V1333M KNDC1_ENST00000368572.2_Missense_Mutation_p.V1335M Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1333 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTGCTACGCTGTGGACTTCCC 0.667000 18 97 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1337296 1337296 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:1337296G>T ENST00000446702.2 + 6 1093 c.466G>T c.(466-468)Gca>Tca p.A156S CNTN6_ENST00000539053.1_Missense_Mutation_p.A84S|CNTN6_ENST00000350110.2_Missense_Mutation_p.A156S Q9UQ52 CNTN6_HUMAN contactin 6 156 Ig-like C2-type 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTTATCTTATGCATGGACCTT 0.363000 9 32 0.000274275 0.000280805 1 1 0 LEPROT 54741 broad.mit.edu 37 1 65895720 65895720 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:65895720C>A ENST00000371065.4 + 3 406 c.268C>A c.(268-270)Cgt>Agt p.R90S LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron NM_001198681.1|NM_017526.4 NP_001185610.1|NP_059996.1 O15243 OBRG_HUMAN leptin receptor overlapping transcript 90 endosome membrane|Golgi membrane|integral to plasma membrane p.R90C(1) kidney(1)|large_intestine(1)|lung(5) 7 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TATTCTTGCTCGTGTGGCTGT 0.438000 19 226 1.33834e-09 1.55536e-09 1 1 0 ZCCHC24 219654 broad.mit.edu 37 10 81154100 81154100 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr10:81154100C>T ENST00000372336.3 - 3 730 c.544G>A c.(544-546)Ggg>Agg p.G182R ZCCHC24_ENST00000372333.3_Missense_Mutation_p.R122Q|RP11-342M3.5_ENST00000438554.2_RNA NM_153367.3 NP_699198.2 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 182 nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1) 9 CAGGAGTTCCCGCTCATCCAT 0.587000 33 116 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 9 264 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589643 156589643 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr5:156589643G>A ENST00000302938.4 - 2 1728 c.1633C>T c.(1633-1635)Cct>Tct p.P545S NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 545 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTGAACCAGGAGTGGCCCTG 0.463000 39 144 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433048 67433048 + Silent SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr11:67433048C>T ENST00000349015.3 - 7 852 c.414G>A c.(412-414)gtG>gtA p.V138V ALDH3B2_ENST00000530069.1_Silent_p.V138V NM_000695.3 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 138 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) AGTTGTCGTCCACGTAGCAGG 0.647000 209 937 0 0 1 0 0 GPR82 27197 broad.mit.edu 37 X 41586575 41586575 + Missense_Mutation SNP T T C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:41586575T>C ENST00000302548.4 + 3 536 c.296T>C c.(295-297)aTg>aCg p.M99T CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron NM_080817.4 NP_543007.1 Q96P67 GPR82_HUMAN G protein-coupled receptor 82 99 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 10 ACTCTATCCATGCATGCAAGT 0.403000 28 68 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 6 396 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420634 105420634 + Missense_Mutation SNP C C G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:105420634C>G ENST00000333244.5 - 7 1273 c.1154G>C c.(1153-1155)cGa>cCa p.R385P NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 385 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CATCACTTCTCGATCCTGTTC 0.632000 43 127 0 0 1 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839479 27839479 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:27839479G>T ENST00000356790.2 + 3 301 c.56G>T c.(55-57)cGa>cTa p.R19L NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 19 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CGTCAGGCCCGAGGAGGGCTG 0.522000 12 97 2.27111e-07 2.52563e-07 1 1 0 EMR1 2015 broad.mit.edu 37 19 6919688 6919688 + Missense_Mutation SNP G G T rs142114236 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr19:6919688G>T ENST00000312053.4 + 13 1587 c.1550G>T c.(1549-1551)gGg>gTg p.G517V EMR1_ENST00000250572.8_Missense_Mutation_p.G517V|EMR1_ENST00000381407.5_Missense_Mutation_p.G376V|EMR1_ENST00000450315.3_Missense_Mutation_p.G340V|EMR1_ENST00000381404.4_Missense_Mutation_p.G465V NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 517 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CGAGTCGTTGGGGGCATAATG 0.468000 4 117 0.000602214 0.000606919 1 1 0 DLL1 28514 broad.mit.edu 37 6 170597470 170597470 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:170597470C>T ENST00000366756.3 - 4 860 c.527G>A c.(526-528)cGc>cAc p.R176H NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 176 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) ACACACGAAGCGGTAGGAGTA 0.657000 7 77 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977363 107977363 + Missense_Mutation SNP C C G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:107977363C>G ENST00000372129.2 - 1 2288 c.2212G>C c.(2212-2214)Gaa>Caa p.E738Q NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 738 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTTGAATCTTCAAAAGGGGAT 0.488000 21 101 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr17:7577568C>A ENST00000420246.2 - 7 845 c.713G>T c.(712-714)tGt>tTt p.C238F TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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) GGAACTGTTACACATGTAGTT 0.572000 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) 22 41 3.28513e-13 3.8879e-13 1 1 0 KRT27 342574 broad.mit.edu 37 17 38933875 38933875 + Missense_Mutation SNP C C G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr17:38933875C>G ENST00000301656.3 - 6 1122 c.1082G>C c.(1081-1083)aGa>aCa p.R361T KRT27_ENST00000540723.1_5'UTR NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 361 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) GGTCTCGGTTCTGACCTGGTG 0.557000 25 300 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887733 97887733 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:97887733G>T ENST00000356526.2 + 1 190 c.190G>T c.(190-192)Ggg>Tgg p.G64W NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CTTACTCCTTGGGAATTTAGC 0.403000 4 179 0.00024832 0.000256266 1 1 0 ALDOC 230 broad.mit.edu 37 17 26902260 26902260 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr17:26902260G>A ENST00000226253.4 - 3 680 c.205C>T c.(205-207)Cgt>Tgt p.R69C ALDOC_ENST00000395319.3_Missense_Mutation_p.R69C|ALDOC_ENST00000395321.2_Missense_Mutation_p.R69C NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 69 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) TTTTTCACACGGTCATCAGCA 0.542000 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 40 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279541 217279541 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr2:217279541G>A ENST00000357276.4 + 3 444 c.114G>A c.(112-114)tcG>tcA p.S38S SMARCAL1_ENST00000358207.5_Silent_p.S38S NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 38 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity p.S38S(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GGACTAGCTCGGGCACCTCCA 0.507000 Schimke Immuno-Osseous Dysplasia 47 208 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35066111 35066111 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr5:35066111C>A ENST00000382002.5 - 10 1375 c.949G>T c.(949-951)Gta>Tta p.V317L PRLR_ENST00000511486.1_Missense_Mutation_p.V216L|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.V317L|PRLR_ENST00000342362.5_Missense_Mutation_p.V216L|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.V317L NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 317 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTATCATCTACTTCTAAATAC 0.453000 8 72 5.18039e-06 5.71171e-06 1 1 0 TAF1C 9013 broad.mit.edu 37 16 84213622 84213622 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr16:84213622G>A ENST00000567759.1 - 13 1811 c.1629C>T c.(1627-1629)ctC>ctT p.L543L TAF1C_ENST00000566732.1_Silent_p.L517L|TAF1C_ENST00000378541.4_Silent_p.L543L|TAF1C_ENST00000341690.6_Silent_p.L449L|TAF1C_ENST00000570117.1_Silent_p.L211L|TAF1C_ENST00000541676.1_Silent_p.L450L NM_005679.3 NP_005670 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 543 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GAAATGCAGGGAGGGAGTCGA 0.652000 14 30 0 0 1 0 0 STUB1 10273 broad.mit.edu 37 16 731257 731257 + Silent SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr16:731257C>T ENST00000565677.1 + 2 656 c.49C>T c.(49-51)Ctg>Ttg p.L17L STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000564370.1_Silent_p.L17L|STUB1_ENST00000219548.4_Silent_p.L89L Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 89 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) CGCCCTGGAGCTGGACGGGCA 0.637000 6 31 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94722857 94722857 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:94722857G>T ENST00000304338.3 + 17 2080 c.1926G>T c.(1924-1926)aaG>aaT p.K642N NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 642 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CTGCTGATAAGCATCTACTTC 0.343000 7 23 8.12818e-05 8.7378e-05 1 1 0 MYO9B 4650 broad.mit.edu 37 19 17213124 17213124 + Nonsense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr19:17213124C>A ENST00000595618.1 + 2 749 c.597C>A c.(595-597)taC>taA p.Y199* MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000594824.1_Nonsense_Mutation_p.Y199*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.Y199* NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 199 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 ACCCCAAGTACGTGAAGATGT 0.567000 43 198 9.39024e-22 1.16475e-21 1 1 0 OTOGL 283310 broad.mit.edu 37 12 80647296 80647296 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr12:80647296G>A ENST00000458043.2 + 13 1315 c.1309G>A c.(1309-1311)Ggt>Agt p.G437S OTOGL_ENST00000547103.1_Missense_Mutation_p.G437S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGCCCATGCGGTTTTCATGG 0.363000 9 59 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100751232 100751232 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr12:100751232G>A ENST00000323346.5 + 1 376 c.63G>A c.(61-63)gtG>gtA p.V21V SLC17A8_ENST00000392989.3_Silent_p.V21V NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 21 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 AGGAAGGAGTGAAGAACGCCG 0.408000 9 121 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139206935 139206935 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:139206935C>A ENST00000423192.1 + 17 2388 c.2227C>A c.(2227-2229)Caa>Aaa p.Q743K ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q743K Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 743 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TGCAATTGACCAAATCAAAAA 0.408000 """N, Splice, Mis""" ETP ALL 10 51 3.86212e-05 4.22215e-05 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102303426 102303426 + RNA SNP A A C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr15:102303426A>C ENST00000561463.1 + 0 11472 TGGGAACAAGAAGACACTCGT 0.572000 3 8 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130380587 130380587 + Silent SNP T T A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:130380587T>A ENST00000358511.6 + 34 5968 c.5937T>A c.(5935-5937)gcT>gcA p.A1979A COL6A6_ENST00000453409.2_Silent_p.A1979A NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1979 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGGGAAGTGCTGAATTTGAAG 0.522000 19 37 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49459813 49459813 + Missense_Mutation SNP C C T rs142950858 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:49459813C>T ENST00000273588.3 - 1 373 c.71G>A c.(70-72)cGt>cAt p.R24H AMT_ENST00000538581.1_Missense_Mutation_p.R24H|AMT_ENST00000395338.2_Missense_Mutation_p.R24H|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_5'UTR|AMT_ENST00000458307.2_Missense_Mutation_p.R24H NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 24 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ACTAAGTGGACGACACAAGGC 0.657000 6 64 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179471787 179471787 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr2:179471787G>A ENST00000589042.1 - 278 53766 c.53542C>T c.(53542-53544)Cct>Tct p.P17848S TTN_ENST00000342175.6_Missense_Mutation_p.P8975S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P8783S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8908S|TTN_ENST00000591111.1_Missense_Mutation_p.P16207S|TTN_ENST00000342992.6_Missense_Mutation_p.P15280S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16207 Fibronectin type-III 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTCAACAGGAGGGCCACAG 0.373000 23 80 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6713200 6713200 + Splice_Site SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr19:6713200C>T ENST00000245907.6 - 9 1095 c.1003G>A c.(1003-1005)Ggc>Agc p.G335S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 335 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGGGCCTCACCTGAGTGCAAG 0.607000 10 65 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38813788 38813788 + Silent SNP A A C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr7:38813788A>C ENST00000310301.4 - 12 993 c.939T>G c.(937-939)acT>acG p.T313T VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Silent_p.T288T NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 313 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TCTCTTCACAAGTCTCAGAAA 0.398000 5 223 0 0 1 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733553 106733553 + RNA SNP G G C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:106733553G>C ENST00000390610.2 - 0 86 CTGCCACCAAGAAGAGGATCC 0.577000 4 130 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72845821 72845821 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr16:72845821C>T ENST00000268489.5 - 6 4318 c.3646G>A c.(3646-3648)Gag>Aag p.E1216K ZFHX3_ENST00000397992.5_Missense_Mutation_p.E302K NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1216 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGTTTGATCTCCTCAGCTGTT 0.542000 53 370 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587527 55587527 + Missense_Mutation SNP T T C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr11:55587527T>C ENST00000333976.4 + 1 442 c.422T>C c.(421-423)cTc>cCc p.L141P NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCCCAGAAACTCTGCGTGCTG 0.468000 31 199 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14808038 14808038 + Missense_Mutation SNP T T C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr11:14808038T>C ENST00000282096.4 + 3 1438 c.1085T>C c.(1084-1086)aTg>aCg p.M362T PDE3B_ENST00000455098.2_Missense_Mutation_p.M362T NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 362 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCTCGCAATATGGTGTCAGAT 0.408000 36 94 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 77 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73169717 73169717 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr4:73169717C>A ENST00000286657.4 - 17 2377 c.2341G>T c.(2341-2343)Ggt>Tgt p.G781C NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 781 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CACTCCACACCAAGATCTATG 0.413000 34 194 9.8876e-21 1.21476e-20 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 5 51 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83712002 83712002 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr16:83712002G>A ENST00000566620.1 + 10 1764 c.1474G>A c.(1474-1476)Gtg>Atg p.V492M CDH13_ENST00000428848.3_Missense_Mutation_p.V453M|CDH13_ENST00000268613.10_Missense_Mutation_p.V539M NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 492 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding p.V492L(1) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGACCTCTCTGTGGGCAGCGT 0.617000 17 93 0 0 1 0 0 RABGGTB 5876 broad.mit.edu 37 1 76257197 76257197 + Missense_Mutation SNP T T A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:76257197T>A ENST00000319942.3 + 6 591 c.520T>A c.(520-522)Tgt>Agt p.C174S RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR NM_004582.3 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 174 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 TGTTTTATCCTGTATGAACTT 0.373000 22 108 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159340 23159340 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr19:23159340G>A ENST00000594710.1 - 4 944 c.799C>T c.(799-801)Cgg>Tgg p.R267W NM_001267716.1 NP_001254645.1 zinc finger protein 728 CTTGAGGACCGGGTGAAGGCT 0.413000 33 60 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 21698994 21698994 + Missense_Mutation SNP A A T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr4:21698994A>T ENST00000382148.3 - 1 403 c.67T>A c.(67-69)Tta>Ata p.L23I KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000447367.2_Intron NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 0 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GAACCTGTTAATAGTCTGAGA 0.363000 8 58 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103498920 103498920 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:103498920G>A ENST00000372588.4 - 2 504 c.421C>T c.(421-423)Cgc>Tgc p.R141C NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 141 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GTGCGGCGGCGGCGTTTCCTC 0.642000 22 100 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77652089 77652089 + Splice_Site SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr4:77652089G>A ENST00000296043.6 + 4 1540 c.e4+1 SHROOM3_ENST00000473602.1_Splice_Site NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACCATTCCAGGTAAGTGGCTA 0.433000 40 199 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63948129 63948129 + Missense_Mutation SNP A A G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr15:63948129A>G ENST00000443617.2 - 50 9983 c.9896T>C c.(9895-9897)gTa>gCa p.V3299A NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3299 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GGTTAGATTTACACCTGTTGC 0.368000 3 13 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113353837 113353837 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr8:113353837G>T ENST00000297405.5 - 42 6765 c.6521C>A c.(6520-6522)aCt>aAt p.T2174N CSMD3_ENST00000343508.3_Missense_Mutation_p.T2134N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2070N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2104N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2174 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACAGTACTAGTTTCTGAGGA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 90 8.12818e-05 8.7378e-05 1 1 0 NF1 4763 broad.mit.edu 37 17 29553568 29553568 + Missense_Mutation SNP C C T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr17:29553568C>T ENST00000358273.4 + 18 2500 c.2117C>T c.(2116-2118)gCc>gTc p.A706V NF1_ENST00000356175.3_Missense_Mutation_p.A706V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 706 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTCTGGTTGCCATGTCCTGT 0.527000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 101 0 0 1 0 0 PCYT1B 9468 broad.mit.edu 37 X 24605407 24605407 + Silent SNP C C G rs34701484 byFrequency TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:24605407C>G ENST00000379145.1 - 5 506 c.462G>C c.(460-462)ccG>ccC p.P154P PCYT1B_ENST00000356768.4_Silent_p.P172P|PCYT1B_ENST00000379144.2_Silent_p.P172P NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 172 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) CAGAGGAATACGGAATGTCAT 0.473000 8 59 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83724555 83724555 + Missense_Mutation SNP A A T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:83724555A>T ENST00000297977.5 - 3 287 c.176T>A c.(175-177)aTg>aAg p.M59K HDX_ENST00000373177.2_Missense_Mutation_p.M59K|HDX_ENST00000506585.2_Start_Codon_SNP_p.M1K NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 59 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTTACTACTCATCTTTCTTCT 0.368000 8 28 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152711530 152711530 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:152711530C>A ENST00000367255.5 - 53 8663 c.8062G>T c.(8062-8064)Ggg>Tgg p.G2688W SYNE1_ENST00000341594.5_Missense_Mutation_p.G2727W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G2695W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G2695W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G2688W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2688 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCCTGTTCCCCCTTGCCAATG 0.453000 HNSCC(10;0.0054) 10 40 4.68919e-08 5.30619e-08 1 1 0 IGSF3 3321 broad.mit.edu 37 1 117142736 117142736 + Missense_Mutation SNP A A G rs138851517 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:117142736A>G ENST00000369486.3 - 7 2621 c.1856T>C c.(1855-1857)aTc>aCc p.I619T IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 619 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCCTTCTCGATGGCAGTTCG 0.627000 3 47 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102502903 102502903 + Missense_Mutation SNP G G A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:102502903G>A ENST00000360184.4 + 57 10996 c.10832G>A c.(10831-10833)cGg>cAg p.R3611Q RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3611 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AAGATCACACGGACCAGCTTC 0.483000 17 137 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23549405 23549405 + Missense_Mutation SNP A A G rs61740446 byFrequency TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr14:23549405A>G ENST00000262710.1 - 6 1640 c.1313T>C c.(1312-1314)aTa>aCa p.I438T ACIN1_ENST00000457657.1_Missense_Mutation_p.I398T|ACIN1_ENST00000555053.1_Missense_Mutation_p.I438T|ACIN1_ENST00000605057.1_Missense_Mutation_p.I380T NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 438 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CATGGGCTCTATTTCTTCTTC 0.512000 16 97 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871064 170871064 + Silent SNP G G A rs112748399 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:170871064G>A ENST00000392092.2 + 3 519 c.240G>A c.(238-240)caG>caA p.Q80Q TBP_ENST00000540980.1_Silent_p.Q60Q|TBP_ENST00000230354.6_Silent_p.Q80Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 80 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 7 55 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32591918 32591918 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:32591918G>T ENST00000357033.4 - 14 1854 c.1648C>A c.(1648-1650)Cgc>Agc p.R550S DMD_ENST00000288447.4_Missense_Mutation_p.R542S|DMD_ENST00000378677.2_Missense_Mutation_p.R546S NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 550 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGAACCCAGCGGTCTTCTGTC 0.443000 14 34 1.15088e-07 1.29098e-07 1 1 0 ASB17 127247 broad.mit.edu 37 1 76387893 76387893 + Missense_Mutation SNP T T C TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:76387893T>C ENST00000284142.6 - 2 692 c.553A>G c.(553-555)Ata>Gta p.I185V NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 185 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 TAGAGTACTATTGTTAAGACA 0.363000 9 24 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 5 395 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71128946 71128946 + Missense_Mutation SNP G G T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr8:71128946G>T ENST00000452400.2 - 3 216 c.35C>A c.(34-36)tCc>tAc p.S12Y NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 12 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTCTGCCCTGGAGGGGTCAGA 0.433000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 21 155 3.5997e-14 4.29964e-14 1 1 0 DKC1 1736 broad.mit.edu 37 X 153993191 153993191 + Nonsense_Mutation SNP A A T TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:153993191A>T ENST00000369550.5 + 2 244 c.34A>T c.(34-36)Aaa>Taa p.K12* NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 12 Nucleolar localization.|Poly-Lys. cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTTGCCAAAGAAACATAAGAA 0.333000 Congenital Dyskeratosis 20 108 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102338591 102338591 + Missense_Mutation SNP C C A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chrX:102338591C>A ENST00000395065.3 - 4 482 c.381G>T c.(379-381)aaG>aaT p.K127N NXF3_ENST00000425463.2_Missense_Mutation_p.K38N|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 127 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TCAGCAGCCACTTCTCATTGT 0.433000 10 79 4.68919e-08 5.30619e-08 1 1 0 KRT27 342574 broad.mit.edu 37 17 38933922 38933922 + Missense_Mutation SNP C C G TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr17:38933922C>G ENST00000301656.3 - 6 1075 c.1035G>C c.(1033-1035)caG>caC p.Q345H KRT27_ENST00000540723.1_5'UTR NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 345 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) GAGCCTGGATCTGTGCCAGCT 0.537000 20 279 0 0 1 0 0 NFKBIE 4794 broad.mit.edu 37 6 44227996 44227996 + Silent SNP C C T rs139653621 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:44227996C>T ENST00000275015.5 - 5 1220 c.1221G>A c.(1219-1221)gcG>gcA p.A407A NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 407 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCAGGTGCAGCGCTGTCTTAC 0.617000 13 92 0 0 1 0 0 RGS21 431704 broad.mit.edu 37 1 192335194 192335195 + Frame_Shift_Ins INS - - A TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr1:192335194_192335195insA ENST00000417209.2 + 5 573_574 c.399_400insA c.(400-402)aaafs p.K134fs NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 134 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 CAGAGATTTATAAAAAACTGGT 0.366 15 63 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aaafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 354 --- --- --- --- CPHL1P 389160 broad.mit.edu 37 3 148999032 148999033 + RNA INS - - GAA rs67798399 by1000genomes TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr3:148999032_148999033insGAA ENST00000482639.2 - 0 195 GGGAAGACACTGAACAGtaaga 0.500 2 4 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1180-1182)tttfs p.F394fs HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 7 317 --- --- --- --- MED27 9442 broad.mit.edu 37 9 134769316 134769318 + In_Frame_Del DEL TTG TTG - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr9:134769316_134769318delTTG ENST00000292035.5 - 5 698_700 c.635_637delCAA c.(634-639)acaata>ata p.T212del MED27_ENST00000357028.2_Intron NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 212 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) CCCTTTACTATTGTTCGATCAAT 0.438 12 55 --- --- --- --- EGR2 1959 broad.mit.edu 37 10 64573471 64573479 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr10:64573471_64573479delGGCGGCGGC ENST00000242480.3 - 2 1244_1252 c.919_927delGCCGCCGCC c.(919-927)gccgccgccdel p.AAA307del EGR2_ENST00000411732.1_In_Frame_Del_p.AAA257del|EGR2_ENST00000439032.1_In_Frame_Del_p.AAA307del NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 307 Poly-Ala. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) GTGGGTTATAGGCGGCGGCGGCGGCGGCT 0.713 9 58 --- --- --- --- TUBA1B 10376 broad.mit.edu 37 12 49523090 49523091 + Frame_Shift_Del DEL CA CA - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr12:49523090_49523091delCA ENST00000336023.5 - 3 403_404 c.309_310delTG c.(307-312)tatgccfs p.A104fs RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 104 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 TGCCCTCGGGCATAGTTATTGG 0.505 16 171 --- --- --- --- ANO4 121601 broad.mit.edu 37 12 101493425 101493425 + Frame_Shift_Del DEL C C - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr12:101493425delC ENST00000392979.3 + 21 2332 c.1971delC c.(1969-1971)ttcfs p.F657fs ANO4_ENST00000299222.9_Frame_Shift_Del_p.F212fs|ANO4_ENST00000392977.3_Frame_Shift_Del_p.F692fs|ANO4_ENST00000550015.1_Frame_Shift_Del_p.F212fs NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 692 chloride channel complex chloride channel activity p.F657F(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAATAAGTTTCCCACAATGGG 0.348 HNSCC(74;0.22) 15 73 --- --- --- --- OAS2 4939 broad.mit.edu 37 12 113425052 113425052 + Frame_Shift_Del DEL C C - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr12:113425052delC ENST00000392583.2 + 2 594 c.387delC c.(385-387)atcfs p.I129fs OAS2_ENST00000449768.2_Frame_Shift_Del_p.I129fs|OAS2_ENST00000342315.4_Frame_Shift_Del_p.I129fs|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 129 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGTTCACCATCCAGGTGTTCA 0.458 23 81 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)gtcfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 4 5 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gcagga>gca p.G105del FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del|FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 125 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 3 5 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-FD-A62S-01A-11D-A30E-08 TCGA-FD-A62S-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 628700b5-b42c-42c9-8500-e7df34090fee fa37b9d1-5ad5-4cea-b91a-d232f4e9e318 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)aatfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 9 172 --- --- --- ---