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 MST1L 11223 broad.mit.edu 37 1 17083621 17083621 + RNA SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:17083621A>G ENST00000455405.2 - 0 967 ttggtgaagtagtaaaaatat 0.363000 3 27 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558488 113558488 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:113558488G>A ENST00000284601.3 - 1 632 c.564C>T c.(562-564)ttC>ttT p.F188F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 188 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTTAAAGGAGAACTGGTCAG 0.333000 31 45 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216243500 216243500 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:216243500G>A ENST00000366943.2 - 30 6378 c.5992C>T c.(5992-5994)Cgt>Tgt p.R1998C USH2A_ENST00000307340.3_Missense_Mutation_p.R1998C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1998 Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CGGGGTGGACGGGTGCTGTCC 0.458000 HNSCC(13;0.011) 20 39 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155154441 155154441 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:155154441G>A ENST00000368382.1 + 9 1770 c.1633G>A c.(1633-1635)Gac>Aac p.D545N TRIM46_ENST00000545012.1_Missense_Mutation_p.D442N|TRIM46_ENST00000334634.4_Missense_Mutation_p.D568N|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.D568N NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 568 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTggctgctgaccggctgct 0.687000 83 36 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205495908 205495908 + Silent SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:205495908T>C ENST00000360066.2 + 8 973 c.672T>C c.(670-672)agT>agC p.S224S CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.S224S|CDK18_ENST00000506784.1_Silent_p.S254S NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 222 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 TCCAGGACAGTGACCTGAAGC 0.627000 8 143 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 367166 367166 + Missense_Mutation SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:367166A>G ENST00000342640.4 - 7 854 c.812T>C c.(811-813)tTg>tCg p.L271S THEG_ENST00000346878.2_Missense_Mutation_p.L247S NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 271 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCTTTGACAACTGGAGGAT 0.572000 28 215 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138662244 138662244 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:138662244G>A ENST00000298480.5 + 17 1794 c.1720G>A c.(1720-1722)Gag>Aag p.E574K KCNT1_ENST00000491806.2_Missense_Mutation_p.E541K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E529K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E574K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E555K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E535K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E555K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E555K B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 574 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GTTCTTCCGCGAGTACGAGGG 0.637000 5 147 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135161869 135161869 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:135161869C>G ENST00000372169.2 - 18 6519 c.6337G>C c.(6337-6339)Gat>Cat p.D2113H SETX_ENST00000224140.5_Missense_Mutation_p.D2113H|SETX_ENST00000393220.1_Missense_Mutation_p.D2113H Q7Z333 SETX_HUMAN senataxin 2113 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATGTTTTCATCTAATTCTTGC 0.303000 10 43 0 0 1 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64129169 64129169 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr11:64129169C>T ENST00000528057.1 + 7 795 c.707C>T c.(706-708)tCg>tTg p.S236L RPS6KA4_ENST00000294261.4_Missense_Mutation_p.S236L|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.S236L NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 236 Protein kinase 1. S -> L (in a breast infiltrating ductal carcinoma sample; somatic mutation). axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity p.S236L(1) breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 ACGGGGGCCTCGCCCTTCACC 0.697000 31 24 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11728286 11728286 + Missense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:11728286G>T ENST00000361113.5 + 4 1176 c.968G>T c.(967-969)aGa>aTa p.R323I ZNF627_ENST00000588174.1_3'UTR NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 GCAAGTGTTAGAAGACACATG 0.448000 18 80 1.45105e-14 1.58822e-14 1 1 0 SPRY1 10252 broad.mit.edu 37 4 124322846 124322846 + Nonsense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:124322846C>T ENST00000394339.2 + 2 440 c.100C>T c.(100-102)Cag>Tag p.Q34* SPRY1_ENST00000339241.1_Nonsense_Mutation_p.Q34* NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 34 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 GAGAGAGATTCAGCCTACTGC 0.483000 12 246 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68395554 68395554 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:68395554G>A ENST00000219334.5 - 8 2421 c.1818C>T c.(1816-1818)atC>atT p.I606I SMPD3_ENST00000568373.1_Silent_p.I589I|SMPD3_ENST00000563226.1_Silent_p.I598I NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 606 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GCATGTAGTCGATGCGCCGGC 0.662000 25 73 0 0 1 0 0 GCM1 8521 broad.mit.edu 37 6 52993371 52993371 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:52993371T>C ENST00000259803.7 - 6 1155 c.944A>G c.(943-945)aAt>aGt p.N315S NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 315 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) AAAAGGATAATTGGAATAACA 0.493000 16 46 0 0 1 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67236080 67236080 + Missense_Mutation SNP A A T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:67236080A>T ENST00000282670.2 + 3 258 c.130A>T c.(130-132)Act>Tct p.T44S TCTEX1D1_ENST00000491611.1_3'UTR NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 44 large_intestine(2)|lung(10)|skin(1) 13 TTCTATGAGTACTGTGTCTTA 0.323000 24 58 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3920921 3920921 + Missense_Mutation SNP T T A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:3920921T>A ENST00000381638.2 - 48 7869 c.7745A>T c.(7744-7746)cAg>cTg p.Q2582L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2582 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GCTACGGCGCTGCTTGGCATA 0.602000 25 86 0 0 1 0 0 CHCHD1 118487 broad.mit.edu 37 10 75541896 75541896 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:75541896G>A ENST00000372837.3 + 1 92 c.63G>A c.(61-63)ctG>ctA p.L21L CHCHD1_ENST00000372833.5_Silent_p.L21L Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 21 nucleus breast(1) 1 Prostate(51;0.0112) AGCCTGTGCTGAAGCCCAATA 0.677000 44 40 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7217235 7217235 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:7217235T>C ENST00000380728.2 - 6 770 c.470A>G c.(469-471)cAa>cGa p.Q157R GPS2_ENST00000389167.5_Missense_Mutation_p.Q157R|GPS2_ENST00000391950.3_Missense_Mutation_p.Q157R|RP11-542C16.2_ENST00000575474.1_3'UTR Q13227 GPS2_HUMAN G protein pathway suppressor 2 157 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) CGTAAGCACTTGGGGTCCAAA 0.512000 5 152 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223971891 223971891 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:223971891C>G ENST00000391878.2 - 18 3670 c.2902G>C c.(2902-2904)Gac>Cac p.D968H TP53BP2_ENST00000391879.2_Missense_Mutation_p.D330H|TP53BP2_ENST00000343537.7_Missense_Mutation_p.D1097H|TP53BP2_ENST00000498843.1_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 1091 Mediates interaction with APC2. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TCATCTTCGTCTTCCCTGTGG 0.453000 23 113 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 224008929 224008929 + Silent SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:224008929A>G ENST00000343537.7 - 2 459 c.168T>C c.(166-168)tgT>tgC p.C56C TP53BP2_ENST00000391878.2_5'UTR NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 50 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CACCAGAGCCACACCACACTT 0.478000 6 79 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 46028655 46028655 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:46028655C>T ENST00000453424.2 - 2 266 c.5G>A c.(4-6)aGc>aAc p.S2N MARCH8_ENST00000395769.2_Missense_Mutation_p.S2N|MARCH8_ENST00000395771.3_Missense_Mutation_p.S2N|MARCH8_ENST00000319836.3_Missense_Mutation_p.S2N NM_001282866.1 NP_001269795.1 Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 2 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 CAGTGGCATGCTCATCCCAAC 0.468000 3 16 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144869907 144869907 + Missense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:144869907G>T ENST00000367545.3 + 46 6727 c.6727G>T c.(6727-6729)Gta>Tta p.V2243L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2243 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CGACTGGCTGGTATTAATCGA 0.413000 9 23 1.12685e-05 1.16388e-05 1 1 0 CALD1 800 broad.mit.edu 37 7 134617839 134617839 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:134617839C>T ENST00000361388.2 + 5 785 c.319C>T c.(319-321)Cgc>Tgc p.R107C CALD1_ENST00000543443.1_Missense_Mutation_p.R112C|CALD1_ENST00000422748.1_Missense_Mutation_p.R107C|CALD1_ENST00000361901.2_Missense_Mutation_p.R107C|CALD1_ENST00000495522.1_Missense_Mutation_p.R101C|CALD1_ENST00000424922.1_Missense_Mutation_p.R101C|CALD1_ENST00000361675.2_Missense_Mutation_p.R107C|CALD1_ENST00000393118.2_Missense_Mutation_p.R101C|CALD1_ENST00000417172.1_Missense_Mutation_p.R107C NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 314 Myosin and calmodulin-binding (By similarity). cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 TGAGGAAAGACGCCAAAAACG 0.552000 32 38 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52344502 52344502 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:52344502C>T ENST00000371068.5 + 9 1660 c.1557C>T c.(1555-1557)aaC>aaT p.N519N EFHC1_ENST00000433625.2_Silent_p.N428N|EFHC1_ENST00000538167.1_Silent_p.N500N NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 519 DM10 3. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) TGGAGAGCAACGCTGCCCAGT 0.478000 26 53 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33749394 33749394 + Missense_Mutation SNP A A C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:33749394A>C ENST00000394562.1 - 4 1177 c.654T>G c.(652-654)atT>atG p.I218M SLFN12_ENST00000452764.3_Missense_Mutation_p.I218M|SLFN12_ENST00000304905.5_Missense_Mutation_p.I218M Q8IYM2 SLN12_HUMAN schlafen family member 12 218 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAATCTCTTTAATTCGTTGTA 0.308000 30 118 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147560402 147560402 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:147560402C>G ENST00000281321.3 + 1 358 c.110C>G c.(109-111)tCg>tGg p.S37W NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 37 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CCGGGCTCCTCGGCTCCCATC 0.736000 11 7 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51994080 51994080 + Nonsense_Mutation SNP A A T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:51994080A>T ENST00000395014.2 - 2 409 c.410T>A c.(409-411)tTa>tAa p.L137* PCBP4_ENST00000484633.1_Intron|PCBP4_ENST00000355852.2_Intron|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000322099.7_Intron|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000461554.1_Intron|PCBP4_ENST00000395013.3_Intron P57723 PCBP4_HUMAN poly(rC) binding protein 4 128 KH 2. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTGCTCCCATAACCCAGAAAA 0.612000 5 71 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 53 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55790469 55790469 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:55790469G>A ENST00000321149.3 - 2 426 c.59C>T c.(58-60)tCt>tTt p.S20F DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.S20F|DYX1C1_ENST00000457155.2_Missense_Mutation_p.S20F|DYX1C1_ENST00000380679.1_Missense_Mutation_p.S20F|DYX1C1_ENST00000348518.3_Missense_Mutation_p.S20F NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 20 CS.|Mediates interaction with ESR1 and STUB1. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) GAGGGGCAGAGACAGAAAGAC 0.567000 11 35 0 0 1 0 0 KIFC3 3801 broad.mit.edu 37 16 57796128 57796128 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:57796128C>T ENST00000379655.4 - 13 1929 c.1672G>A c.(1672-1674)Gag>Aag p.E558K KIFC3_ENST00000539578.1_Missense_Mutation_p.E500K|KIFC3_ENST00000541240.1_Missense_Mutation_p.E580K|KIFC3_ENST00000543930.1_Missense_Mutation_p.E416K|KIFC3_ENST00000465878.2_Missense_Mutation_p.E419K|KIFC3_ENST00000445690.2_Missense_Mutation_p.E558K|KIFC3_ENST00000421376.2_Missense_Mutation_p.E419K|KIFC3_ENST00000562903.1_Missense_Mutation_p.E419K|KIFC3_ENST00000540079.2_Missense_Mutation_p.E456K NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 558 Kinesin-motor. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) TCCTGCACCTCGGAGAAGAGC 0.627000 7 20 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 153 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042442 49042442 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr22:49042442C>G ENST00000358295.5 + 2 300 c.125C>G c.(124-126)aCc>aGc p.T42S FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.T49S NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 49 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GAGATTGTGACCTTGGACCGG 0.677000 5 26 0 0 1 0 0 OTUD5 55593 broad.mit.edu 37 X 48781020 48781020 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chrX:48781020G>A ENST00000156084.4 - 8 1544 c.1484C>T c.(1483-1485)aCa>aTa p.T495I OTUD5_ENST00000428668.2_Missense_Mutation_p.T273I|OTUD5_ENST00000396743.3_Missense_Mutation_p.T490I|OTUD5_ENST00000376488.3_Missense_Mutation_p.T490I NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 495 negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 CTGACTGCTTGTACCTGAAGC 0.617000 10 7 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30338214 30338214 + Missense_Mutation SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr21:30338214C>A ENST00000389194.2 - 11 2279 c.2274G>T c.(2272-2274)tgG>tgT p.W758C LTN1_ENST00000389195.2_Missense_Mutation_p.W758C|LTN1_ENST00000361371.5_Missense_Mutation_p.W712C NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 712 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GAAGAGAATTCCATTTCAAGT 0.303000 6 14 8.12818e-05 8.24056e-05 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40757337 40757337 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:40757337G>A ENST00000298910.7 + 48 7220 c.7162G>A c.(7162-7164)Gac>Aac p.D2388N NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2388 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGGACTAATAGACTGCGTGCA 0.373000 7 28 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 24 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90022685 90022685 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:90022685G>C ENST00000268122.4 - 5 773 c.705C>G c.(703-705)ttC>ttG p.F235L RHCG_ENST00000544600.1_Missense_Mutation_p.F235L NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 235 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) TGGCTGAGTTGAAGCTGGGCC 0.597000 22 27 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100214790 100214790 + Nonsense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:100214790C>T ENST00000354410.5 + 6 1218 c.589C>T c.(589-591)Cag>Tag p.Q197* MEF2A_ENST00000453228.2_Nonsense_Mutation_p.Q195*|MEF2A_ENST00000557785.1_Nonsense_Mutation_p.Q195*|MEF2A_ENST00000449277.2_Nonsense_Mutation_p.Q127*|MEF2A_ENST00000558812.1_Nonsense_Mutation_p.Q127*|MEF2A_ENST00000557942.1_Nonsense_Mutation_p.Q195*|MEF2A_ENST00000338042.6_Nonsense_Mutation_p.Q195* NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 197 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TGGAGCTCCTCAGAGACCACC 0.433000 39 144 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230456365 230456365 + Silent SNP C C T rs138325902 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:230456365C>T ENST00000341772.4 - 2 650 c.516G>A c.(514-516)acG>acA p.T172T NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 172 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GCAGTGTCACCGTTGCCTGAG 0.522000 10 12 0 0 1 0 0 NKG7 4818 broad.mit.edu 37 19 51875546 51875546 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:51875546G>A ENST00000221978.5 - 2 352 c.173C>T c.(172-174)aCg>aTg p.T58M NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Intron NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 58 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GAAGGTCTGCGTCACGTGGAT 0.607000 44 228 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 57999139 57999139 + Translation_Start_Site SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:57999139G>A ENST00000424930.2 + 0 50 ZNF419_ENST00000520540.1_De_novo_Start_OutOfFrame|ZNF419_ENST00000347466.6_De_novo_Start_OutOfFrame|ZNF419_ENST00000415379.2_De_novo_Start_OutOfFrame|ZNF419_ENST00000354197.4_De_novo_Start_OutOfFrame|ZNF419_ENST00000442920.2_De_novo_Start_OutOfFrame|AC003005.4_ENST00000601674.1_De_novo_Start_OutOfFrame|ZNF419_ENST00000426954.2_De_novo_Start_OutOfFrame|ZNF419_ENST00000221735.7_De_novo_Start_OutOfFrame|ZNF419_ENST00000518999.1_5'UTR NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TCGCGACTCAGGTGAACTAAC 0.627000 7 8 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480631 95480631 + RNA SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:95480631T>C ENST00000432432.2 - 0 2729 NR_040113.1 ccccagccccttgcaaacatt 0.393000 4 11 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103870975 103870975 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr11:103870975G>A ENST00000393158.2 - 2 312 c.133C>T c.(133-135)Cac>Tac p.H45Y PDGFD_ENST00000302251.5_Intron Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 45 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TCTGTGAGGTGATTGCTCTCT 0.433000 26 65 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56478852 56478852 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:56478852G>A ENST00000267101.3 + 3 748 c.308G>A c.(307-309)cGc>cAc p.R103H ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.R44H|ERBB3_ENST00000411731.2_Missense_Mutation_p.R103H NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 103 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.R103H(1) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCCAACCTCCGCGTGGTGCGA 0.517000 13 140 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124237266 124237266 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:124237266G>A ENST00000240874.3 + 34 5106 c.4949G>A c.(4948-4950)cGg>cAg p.R1650Q KALRN_ENST00000360013.3_Intron|KALRN_ENST00000393496.1_Intron|KALRN_ENST00000460856.1_Missense_Mutation_p.R1641Q NM_003947.4 NP_003938.1 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 0 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTTGTTCCTCGGTGGCACCTG 0.527000 34 86 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3582077 3582077 + Missense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr18:3582077G>T ENST00000315677.3 - 8 2356 c.1761C>A c.(1759-1761)agC>agA p.S587R DLGAP1_ENST00000400149.3_Missense_Mutation_p.S277R|DLGAP1_ENST00000400147.2_Missense_Mutation_p.S285R|DLGAP1_ENST00000539435.1_Missense_Mutation_p.S295R|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S587R|DLGAP1_ENST00000581699.1_Missense_Mutation_p.S293R|DLGAP1_ENST00000400155.1_Missense_Mutation_p.S293R|DLGAP1_ENST00000400145.2_Missense_Mutation_p.S285R|DLGAP1_ENST00000534970.1_Missense_Mutation_p.S271R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S587R|DLGAP1_ENST00000400150.3_Missense_Mutation_p.S303R|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S587R NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 587 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGGTGGAGTTGCTGAGTCCAG 0.557000 25 53 5.35047e-06 5.57869e-06 1 1 0 WHAMM 123720 broad.mit.edu 37 15 83481871 83481871 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:83481871G>A ENST00000286760.4 + 2 725 c.626G>A c.(625-627)gGa>gAa p.G209E NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 209 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 CAAGGACACGGAAAAGCCAAC 0.378000 12 26 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23545443 23545443 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:23545443T>C ENST00000300619.7 - 4 543 c.338A>G c.(337-339)gAa>gGa p.E113G ZNF91_ENST00000397082.2_Missense_Mutation_p.E81G|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 113 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TCCACATTTTTCATATTTTCT 0.333000 23 94 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11071190 11071190 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:11071190C>T ENST00000409790.1 + 8 1067 c.837C>T c.(835-837)ctC>ctT p.L279L CLEC16A_ENST00000409552.3_Silent_p.L277L NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 279 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ACGATGTGCTCACTGACCACC 0.557000 5 234 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51992103 51992103 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:51992103C>T ENST00000461554.1 - 14 1517 c.1186G>A c.(1186-1188)Gag>Aag p.E396K PCBP4_ENST00000484633.1_Missense_Mutation_p.E353K|PCBP4_ENST00000355852.2_Missense_Mutation_p.E396K|PCBP4_ENST00000471622.1_3'UTR|PCBP4_ENST00000322099.7_Missense_Mutation_p.E396K|PCBP4_ENST00000428823.2_Missense_Mutation_p.E353K|PCBP4_ENST00000395014.2_Missense_Mutation_p.E417K|PCBP4_ENST00000395013.3_Missense_Mutation_p.E236K NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 396 cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTCTGCCGCTCAGCCTTCTTG 0.652000 56 129 0 0 1 0 0 ATP5B 506 broad.mit.edu 37 12 57039721 57039721 + Silent SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:57039721G>T ENST00000262030.3 - 1 77 c.27C>A c.(25-27)gcC>gcA p.A9A ATP5B_ENST00000552919.1_Silent_p.A9A NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 9 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCGGAGCAGCGGCCACCCGAC 0.692000 3 6 6.4e-05 6.54884e-05 1 1 0 ITGB8 3696 broad.mit.edu 37 7 20444283 20444283 + Missense_Mutation SNP T T A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:20444283T>A ENST00000222573.4 + 11 2404 c.1720T>A c.(1720-1722)Tgc>Agc p.C574S ITGB8_ENST00000537992.1_Missense_Mutation_p.C439S NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CAGATGCCAATGCTTCAGTGG 0.527000 10 26 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34888169 34888169 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:34888169G>A ENST00000360581.1 + 8 1047 c.919G>A c.(919-921)Gag>Aag p.E307K NPSR1_ENST00000531252.1_Missense_Mutation_p.E296K|NPSR1_ENST00000381542.1_Missense_Mutation_p.E241K|NPSR1_ENST00000381539.3_Missense_Mutation_p.E307K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E307K NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 307 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AGACACCCAGGAGCGTTTCTA 0.488000 75 210 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202568473 202568473 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:202568473T>C ENST00000367267.1 - 8 1118 c.926A>G c.(925-927)tAc>tGc p.Y309C SYT2_ENST00000367268.4_Missense_Mutation_p.Y309C NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 309 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GATCTTCACGTACGGGTCTGC 0.552000 35 98 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150776703 150776703 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:150776703C>T ENST00000540185.1 - 2 891 c.287G>A c.(286-288)cGg>cAg p.R96Q FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R130Q|FASTK_ENST00000297532.6_Missense_Mutation_p.R130Q|FASTK_ENST00000353841.2_Intron Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 130 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) AGGAGGGGGCCGTGGCCGAGA 0.637000 4 38 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444237 15444237 + Silent SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:15444237T>C ENST00000295297.4 + 3 964 c.705T>C c.(703-705)caT>caC p.H235H C1QTNF7_ENST00000429690.1_Silent_p.H228H|C1QTNF7_ENST00000444304.2_Silent_p.H228H NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 228 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CAGGAAACCATGATGTGGCTT 0.478000 32 153 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128703775 128703775 + Nonsense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:128703775G>T ENST00000296464.4 + 1 481 c.70G>T c.(70-72)Gag>Tag p.E24* HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.E55*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.E24* NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TGGCGGCATCGAGACCATCGC 0.562000 OREG0016319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 25 3.27435e-08 3.47999e-08 1 1 0 POLA2 23649 broad.mit.edu 37 11 65046299 65046299 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr11:65046299G>A ENST00000265465.3 + 6 1091 c.560G>A c.(559-561)gGa>gAa p.G187E POLA2_ENST00000541089.1_5'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 187 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) GGGAGAGGAGGAGCTGGAAAC 0.507000 41 99 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1101652 1101652 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr11:1101652C>T ENST00000441003.2 + 42 7692 c.7665C>T c.(7663-7665)ttC>ttT p.F2555F NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4917 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCTGTCCTTTCTACTGGTGTG 0.632000 28 61 0 0 1 0 0 HCG17 414778 broad.mit.edu 37 6 30231143 30231143 + RNA SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:30231143T>C ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA GGAGTCATTTTTCCTGTCATT 0.488000 14 235 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176085 140176085 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:140176085G>A ENST00000526136.1 + 1 1536 c.1536G>A c.(1534-1536)gcG>gcA p.A512A PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A512A|PCDHA2_ENST00000520672.2_Silent_p.A512A|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGCACGCGGAGAGCGGCA 0.701000 6 145 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24808846 24808846 + Silent SNP G G A rs150034813 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:24808846G>A ENST00000395799.3 + 10 3726 c.3597G>A c.(3595-3597)gcG>gcA p.A1199A TNRC6A_ENST00000315183.7_Silent_p.A1199A NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1199 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AAGAAGAAGCGTGGATAAATC 0.363000 10 27 0 0 1 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819715 70819715 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:70819715C>T ENST00000370944.4 - 1 690 c.377G>A c.(376-378)aGg>aAg p.R126K ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R126K NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 126 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 GGAGAGTCTCCTCACATCCCC 0.617000 14 13 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140482 50140482 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:50140482C>T ENST00000371564.3 - 2 517 c.298G>A c.(298-300)Gcg>Acg p.A100T NFATC2_ENST00000609943.1_Missense_Mutation_p.A80T|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.A100T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A80T NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 100 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGCTTGGCCGCGCTCAGAAAC 0.662000 22 89 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65210004 65210004 + Silent SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr14:65210004G>T ENST00000247226.7 + 15 3383 c.3075G>T c.(3073-3075)tcG>tcT p.S1025S PLEKHG3_ENST00000484731.2_Silent_p.S586S|PLEKHG3_ENST00000471182.2_Silent_p.S614S|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Silent_p.S1081S NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 1081 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGAGCCACTCGGTGCCGGAGA 0.716000 23 37 7.87624e-14 8.53583e-14 1 1 0 ASXL2 55252 broad.mit.edu 37 2 25972633 25972633 + Nonsense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:25972633G>A ENST00000435504.4 - 12 2085 c.1792C>T c.(1792-1794)Cag>Tag p.Q598* ASXL2_ENST00000404843.1_Nonsense_Mutation_p.Q338*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.Q338*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.Q570* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGAGACCTGAAATGGCTGC 0.522000 9 42 0 0 1 0 0 FBXW2 26190 broad.mit.edu 37 9 123526953 123526953 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:123526953C>T ENST00000608872.1 - 8 1436 c.1249G>A c.(1249-1251)Gca>Aca p.A417T FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.A352T NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 proteolysis protein binding|ubiquitin-protein ligase activity ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 GCTTCGCCTGCCAGGAAGCTT 0.547000 51 131 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183245281 183245281 + Silent SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:183245281C>A ENST00000511685.1 + 2 231 c.108C>A c.(106-108)ccC>ccA p.P36P TENM3_ENST00000406950.2_Silent_p.P36P teneurin transmembrane protein 3 GCCGGGTACCCACACAGAAGT 0.517000 23 60 2.21704e-12 2.39092e-12 1 1 0 SDK1 221935 broad.mit.edu 37 7 4050746 4050746 + Splice_Site SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:4050746G>A ENST00000404826.2 + 15 2418 c.e15+1 SDK1_ENST00000389531.3_Splice_Site NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGACAAGCAGGTGCGTGAATC 0.607000 24 8 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5461922 5461922 + Missense_Mutation SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:5461922C>A ENST00000282908.5 + 9 1298 c.876C>A c.(874-876)ttC>ttA p.F292L STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.F215L|STK32B_ENST00000510398.1_Missense_Mutation_p.F245L NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 292 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 ACGCGGTGTTCAAGAAGGCAC 0.587000 OREG0016061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 114 1.9806e-07 2.07491e-07 1 1 0 EFTUD2 9343 broad.mit.edu 37 17 42937369 42937369 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:42937369G>C ENST00000426333.2 - 18 2061 c.1764C>G c.(1762-1764)atC>atG p.I588M EFTUD2_ENST00000591382.1_Missense_Mutation_p.I588M|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I578M|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I553M NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 588 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CAGCAATCTTGATAACAGATG 0.507000 67 168 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188442 37188442 + RNA SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:37188442G>C ENST00000425901.2 + 0 2284 NR_033753.2 ATCGAAACCTGACTGAAGTCA 0.483000 50 134 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100201316 100201316 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:100201316C>T ENST00000209668.2 - 7 1062 c.949G>A c.(949-951)Gga>Aga p.G317R RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 317 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) AGAATAGCTCCCTTCCAGGTA 0.463000 113 171 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167802338 167802338 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:167802338G>A ENST00000367848.1 - 25 3701 c.3204C>T c.(3202-3204)ctC>ctT p.L1068L ADCY10_ENST00000367851.4_Silent_p.L1160L|ADCY10_ENST00000545172.1_Silent_p.L1007L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1160 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTCGGTTGAGGAGCTTCAGTG 0.453000 13 276 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26874858 26874858 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:26874858G>A ENST00000484980.1 - 3 3323 c.162C>T c.(160-162)ttC>ttT p.F54F UNC119_ENST00000301032.4_Silent_p.F149F|UNC119_ENST00000470125.1_Silent_p.F54F|UNC119_ENST00000335765.4_Silent_p.F149F Q13432 U119A_HUMAN unc-119 homolog (C. elegans) 149 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) CTCCCACTGTGAACTCCACCC 0.542000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 99 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216889 111216889 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:111216889G>A ENST00000369769.2 - 1 766 c.543C>T c.(541-543)tcC>tcT p.S181S NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 181 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGATCTCCTCGGAGAAAATGT 0.667000 30 122 0 0 1 0 0 GPX7 2882 broad.mit.edu 37 1 53072441 53072441 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:53072441G>A ENST00000361314.4 + 2 262 c.224G>A c.(223-225)gGc>gAc p.G75D GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 75 GPH -> HED (in Ref. 7). response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) CGAGACCTGGGCCCCCACCAC 0.602000 13 101 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83362045 83362045 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chrX:83362045G>A ENST00000262752.2 - 14 1122 c.1115C>T c.(1114-1116)tCt>tTt p.S372F RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S372F NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 372 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.S372Y(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CAAACCGGGAGAATCTAATGT 0.328000 11 12 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724323 50724323 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:50724323G>A ENST00000515869.1 - 6 2362 c.2242C>T c.(2242-2244)Cac>Tac p.H748Y PGBD3_ENST00000374127.3_Missense_Mutation_p.H280Y|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.H280Y|PGBD3_ENST00000603152.1_Missense_Mutation_p.H748Y|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.H748Y NM_001277059.1 NP_001263988.1 TTGCACCCGTGACGACCAAAA 0.423000 12 17 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677614 149677614 + Silent SNP G G A rs147391838 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:149677614G>A ENST00000328668.7 - 2 1452 c.873C>T c.(871-873)gtC>gtT p.V291V NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 291 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAAGATGATGACACTGTTGT 0.607000 12 29 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130934768 130934768 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:130934768G>A ENST00000261655.4 - 6 670 c.507C>T c.(505-507)gtC>gtT p.V169V RIMBP2_ENST00000535703.1_Silent_p.V77V|RIMBP2_ENST00000536002.1_Silent_p.V77V NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 169 SH3 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CACAGAGGTGGACCTTCCCCG 0.557000 3 10 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62545169 62545169 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:62545169C>T ENST00000371158.2 + 32 4287 c.4173C>T c.(4171-4173)ttC>ttT p.F1391F INADL_ENST00000316485.6_Silent_p.F1391F|INADL_ENST00000543708.1_Silent_p.F175F|INADL_ENST00000545929.1_Silent_p.F64F NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1391 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AAGTCTCCTTCAGTTCACAAG 0.388000 44 38 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220334073 220334073 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:220334073G>C ENST00000312358.7 + 13 3819 c.3687G>C c.(3685-3687)caG>caC p.Q1229H SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1229 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACCGCATCCAGAGCAGCGACG 0.642000 10 22 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6380209 6380209 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:6380209C>T ENST00000335585.5 - 3 282 c.259G>A c.(259-261)Gag>Aag p.E87K PPP2R2C_ENST00000515571.1_Missense_Mutation_p.E70K|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.E80K|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.E87K|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.E80K NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 87 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TCCTCTATCTCCAGGCTCTTG 0.577000 31 125 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156375475 156375475 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:156375475C>T ENST00000274532.2 - 5 852 c.796G>A c.(796-798)Gtg>Atg p.V266M TIMD4_ENST00000407087.3_Intron NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 266 Ser-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACATTGACACGTGGGATGTT 0.373000 8 15 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37129879 37129879 + Silent SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:37129879G>C ENST00000588268.1 - 6 1595 c.1368C>G c.(1366-1368)ctC>ctG p.L456L ZNF461_ENST00000360357.4_Silent_p.L433L|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GATGTCTTTTGAGGTGTGAAC 0.398000 26 47 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33954552 33954552 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:33954552G>A ENST00000382102.3 - 4 1003 c.946C>T c.(946-948)Cac>Tac p.H316Y SLC45A2_ENST00000296589.4_Missense_Mutation_p.H316Y|SLC45A2_ENST00000345083.5_Missense_Mutation_p.H208Y|SLC45A2_ENST00000509381.1_Missense_Mutation_p.S207L|SLC45A2_ENST00000342059.3_Missense_Mutation_p.H257Y NM_001012509.2 NP_001012527 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 316 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.H316Y(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TAGCGGTAGTGAGGAGGCATG 0.478000 13 61 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49695493 49695493 + Missense_Mutation SNP G G A rs147846190 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:49695493G>A ENST00000296452.4 + 5 8618 c.8504G>A c.(8503-8505)cGc>cAc p.R2835H NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2835 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCGCTCTCCGCCAGCAGACG 0.622000 76 42 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53875051 53875051 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:53875051G>C ENST00000267079.2 - 15 2720 c.2495C>G c.(2494-2496)tCt>tGt p.S832C MAP3K12_ENST00000547035.1_Missense_Mutation_p.S865C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.S865C NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 832 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TGAGTCCTCAGAATTGGGAGG 0.498000 3 15 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423875 190423875 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:190423875G>C ENST00000367462.3 - 2 377 c.146C>G c.(145-147)tCt>tGt p.S49C BRINP3_ENST00000534846.1_Missense_Mutation_p.L11V NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 49 TCCCTTATCAGAGAGGAGCCA 0.498000 19 37 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44329600 44329600 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:44329600C>T ENST00000288390.2 + 4 792 c.445C>T c.(445-447)Cca>Tca p.P149S RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.P149S Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 149 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GACATTTTACCCAAGGTTTAG 0.478000 51 127 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33290975 33290975 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr14:33290975T>C ENST00000280979.4 + 13 4126 c.3956T>C c.(3955-3957)gTt>gCt p.V1319A AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1319 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CAGCCTAATGTTTTAACTAAG 0.418000 4 44 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214588 11214588 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:11214588G>A ENST00000533467.1 - 1 305 c.306C>T c.(304-306)ctC>ctT p.L102L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 102 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AAAATATGCTGAGGCTAGTAG 0.383000 75 68 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141010092 141010092 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:141010092G>A ENST00000277549.5 + 42 5889 c.3320G>A c.(3319-3321)cGa>cAa p.R1107Q CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1911Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1912Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1914Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1913Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1913Q Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1913 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTTTTCCTTCGACAGAAGAGT 0.592000 30 61 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18327678 18327678 + Missense_Mutation SNP T T A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:18327678T>A ENST00000355502.3 - 16 2229 c.1358A>T c.(1357-1359)gAc>gTc p.D453V PDE4C_ENST00000597297.1_Missense_Mutation_p.D223V|PDE4C_ENST00000262805.12_Missense_Mutation_p.D421V|PDE4C_ENST00000594617.3_Missense_Mutation_p.D453V|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Missense_Mutation_p.D168V|PDE4C_ENST00000539010.1_Missense_Mutation_p.D222V|PDE4C_ENST00000447275.3_Missense_Mutation_p.D347V|PDE4C_ENST00000594465.3_Missense_Mutation_p.D453V Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 453 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CACCGAGGCGTCGTTGTACAT 0.577000 27 91 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97822764 97822764 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:97822764C>G ENST00000297293.5 + 11 3280 c.2987C>G c.(2986-2988)aCc>aGc p.T996S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 996 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCCCTGGAAACCCCGGACTCT 0.602000 40 187 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52656895 52656895 + Silent SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:52656895A>G ENST00000399231.3 - 24 3408 c.3165T>C c.(3163-3165)acT>acC p.T1055T MYO5A_ENST00000399233.2_Silent_p.T1055T|MYO5A_ENST00000358212.6_Silent_p.T1055T|MYO5A_ENST00000553916.1_Silent_p.T1055T|MYO5A_ENST00000356338.6_Silent_p.T1055T NM_000259.3 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1055 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCTTCTCCATAGTTTCTGAAA 0.378000 35 42 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365908 7365908 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:7365908G>C ENST00000311403.4 - 4 2732 c.2393C>G c.(2392-2394)cCt>cGt p.P798R ZBTB4_ENST00000380599.4_Missense_Mutation_p.P798R NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 798 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GGCAATGACAGGGGTTGGGGT 0.662000 21 117 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65007942 65007942 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr14:65007942C>T ENST00000247207.6 + 1 757 c.375C>T c.(373-375)ctC>ctT p.L125L HSPA2_ENST00000394709.1_Silent_p.L125L|HSPA2_ENST00000554883.1_Intron NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 125 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CCATGGTCCTCACGAAGATGA 0.597000 16 31 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193313 128193313 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:128193313G>A ENST00000284694.7 - 3 576 c.456C>T c.(454-456)cgC>cgT p.R152R C10orf90_ENST00000454341.1_Silent_p.R152R|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Silent_p.R105R|C10orf90_ENST00000356858.3_Silent_p.R105R|C10orf90_ENST00000544758.1_Silent_p.R249R NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 152 p.R152R(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) ACACCAGGGCGCGGGCTGGGG 0.697000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 57 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q265Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgttgctgctgct 0.537000 5 78 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59059228 59059228 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:59059228G>A ENST00000253024.5 + 6 1198 c.909G>A c.(907-909)atG>atA p.M303I TRIM28_ENST00000341753.6_Missense_Mutation_p.M221I NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 303 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGCAGATCATGAAGGAGCTGA 0.567000 49 48 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139081296 139081296 + Nonsense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:139081296G>A ENST00000333188.5 - 16 2129 c.1948C>T c.(1948-1950)Cag>Tag p.Q650* COPB2_ENST00000507777.1_Nonsense_Mutation_p.Q621* NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 650 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TCTCCAAGCTGAAGAGCAAGC 0.358000 5 31 0 0 1 0 0 IER5 51278 broad.mit.edu 37 1 181058345 181058345 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:181058345G>A ENST00000367577.4 + 1 708 c.307G>A c.(307-309)Gag>Aag p.E103K NM_016545.4 NP_057629.2 Q5VY09 IER5_HUMAN immediate early response 5 103 lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 4 GCCGCAGCCGGAGCGCTCCTC 0.776000 4 12 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71693748 71693748 + Missense_Mutation SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:71693748A>G ENST00000254799.6 - 6 1073 c.956T>C c.(955-957)aTc>aCc p.I319T GRSF1_ENST00000502323.1_Missense_Mutation_p.I157T|GRSF1_ENST00000439371.1_Missense_Mutation_p.I157T|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.I201T NM_002092.3 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 319 RRM 2. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) AAATATCTCGATGTATCTATG 0.328000 13 37 0 0 1 0 0 TRAV30 28652 broad.mit.edu 37 14 22636742 22636742 + RNA SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr14:22636742C>T ENST00000557168.1 + 0 195 CACCCGTCTTCCTGATGATAT 0.453000 20 33 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97918151 97918151 + RNA SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:97918151C>T ENST00000534948.1 + 0 2929 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CAGGAGAGCTCAAAACCAGAT 0.338000 17 28 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081652 54081652 + Missense_Mutation SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:54081652A>G ENST00000394705.2 - 2 512 c.242T>C c.(241-243)tTc>tCc p.F81S ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 81 Phe-rich. integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CAGGATCATGAAATCAAAGTT 0.473000 45 41 0 0 1 0 0 IQCK 124152 broad.mit.edu 37 16 19746716 19746716 + Missense_Mutation SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:19746716C>A ENST00000320394.6 + 5 1117 c.418C>A c.(418-420)Ctg>Atg p.L140M IQCK_ENST00000564186.1_Missense_Mutation_p.L140M|IQCK_ENST00000541926.1_Missense_Mutation_p.L140M|IQCK_ENST00000433597.2_Missense_Mutation_p.L52M NM_153208.1 NP_694940.1 Q8N0W5 IQCK_HUMAN IQ motif containing K 140 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CTTTCCTGTTCTGCTTCCCGG 0.423000 16 53 7.07596e-05 7.207e-05 1 1 0 PNLDC1 154197 broad.mit.edu 37 6 160240056 160240056 + Missense_Mutation SNP G G A rs145458684 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:160240056G>A ENST00000610273.1 + 17 1474 c.1303G>A c.(1303-1305)Gag>Aag p.E435K PNLDC1_ENST00000392167.3_Missense_Mutation_p.E446K NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 integral to membrane|nucleus nucleic acid binding p.E435K(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TGGGGTCAGCGAGCAGCAAGT 0.458000 71 51 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130839086 130839086 + Missense_Mutation SNP A A C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:130839086A>C ENST00000245255.3 + 10 1321 c.1049A>C c.(1048-1050)tAc>tCc p.Y350S NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 350 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAGCAGCAATACAACCAAGAG 0.522000 6 216 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138676432 138676432 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:138676432G>C ENST00000298480.5 + 26 3069 c.2995G>C c.(2995-2997)Gac>Cac p.D999H KCNT1_ENST00000491806.2_Missense_Mutation_p.D966H|KCNT1_ENST00000487664.1_Missense_Mutation_p.D954H|KCNT1_ENST00000371757.2_Missense_Mutation_p.D999H|KCNT1_ENST00000263604.3_Missense_Mutation_p.D980H|KCNT1_ENST00000486577.2_Missense_Mutation_p.D958H|KCNT1_ENST00000490355.2_Missense_Mutation_p.D978H|KCNT1_ENST00000488444.2_Missense_Mutation_p.D980H B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 999 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GCTGGGCCTGGACACCACGCC 0.692000 18 6 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480633 95480633 + RNA SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:95480633G>A ENST00000432432.2 - 0 2727 NR_040113.1 ccagccccttgcaaacattaa 0.388000 4 11 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11728072 11728072 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:11728072G>C ENST00000361113.5 + 4 962 c.754G>C c.(754-756)Gaa>Caa p.E252Q ZNF627_ENST00000588174.1_3'UTR NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 TAAACCCTATGAATGCAAGCA 0.428000 13 54 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71650620 71650620 + Missense_Mutation SNP A A G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:71650620A>G ENST00000409544.1 + 22 4606 c.3976A>G c.(3976-3978)Ata>Gta p.I1326V ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.I266V|ZNF638_ENST00000264447.4_Missense_Mutation_p.I1326V NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1326 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GGATCTTCAAATAGGAACAGA 0.363000 12 63 0 0 1 0 0 ORC5 5001 broad.mit.edu 37 7 103841286 103841286 + Missense_Mutation SNP A A T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:103841286A>T ENST00000297431.4 - 3 428 c.286T>A c.(286-288)Tgt>Agt p.C96S ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.C96S NM_002553.3 NP_002544.1 O43913 ORC5_HUMAN origin recognition complex, subunit 5 96 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 AATGTTTCACAGGTTATTTCA 0.303000 16 14 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100803431 100803431 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr14:100803431C>T ENST00000355338.2 - 10 1840 c.1222G>A c.(1222-1224)Gag>Aag p.E408K WARS_ENST00000557135.1_Missense_Mutation_p.E408K|WARS_ENST00000344102.5_Missense_Mutation_p.E367K|WARS_ENST00000556645.1_Missense_Mutation_p.E367K|WARS_ENST00000358655.4_Missense_Mutation_p.E367K|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Missense_Mutation_p.E408K NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 408 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCGTCGTCCTCGAGGAAGAAG 0.597000 75 185 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118982272 118982272 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:118982272C>T ENST00000328252.3 + 5 2344 c.1975C>T c.(1975-1977)Ctg>Ttg p.L659L PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 659 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GCACTGTTACCTGGACCTGGT 0.597000 86 67 0 0 1 0 0 MFSD5 84975 broad.mit.edu 37 12 53646949 53646949 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:53646949C>T ENST00000534842.1 + 2 798 c.651C>T c.(649-651)ctC>ctT p.L217L MFSD5_ENST00000329548.4_Silent_p.L110L NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 110 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CTTGTGTCCTCTTCTCCCTGA 0.537000 113 266 0 0 1 0 0 SUPT7L 9913 broad.mit.edu 37 2 27880452 27880452 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:27880452G>A ENST00000337768.5 - 4 1073 c.504C>T c.(502-504)caC>caT p.H168H SUPT7L_ENST00000406540.1_Silent_p.H166H|SUPT7L_ENST00000464789.2_Silent_p.H166H|SUPT7L_ENST00000405491.1_Silent_p.H166H|SUPT7L_ENST00000404798.2_Silent_p.H33H NM_001282729.1|NM_014860.1 NP_001269658.1|NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 168 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) CAAAGCCCGCGTGGGCCAGGA 0.537000 32 39 0 0 1 0 0 RRN3 54700 broad.mit.edu 37 16 15155703 15155703 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:15155703G>A ENST00000198767.6 - 18 1937 c.1854C>T c.(1852-1854)acC>acT p.T618T RRN3_ENST00000540462.1_Silent_p.T436T|RRN3_ENST00000327307.7_Silent_p.T585T|RRN3_ENST00000563559.1_Silent_p.T618T|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Silent_p.T588T NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 618 Interaction with EIF3L.|Interaction with TWISTNB. regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 TCCCAATCACGGTATCATTCT 0.488000 12 38 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96637534 96637534 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr13:96637534C>G ENST00000397618.3 - 10 1176 c.1089G>C c.(1087-1089)ttG>ttC p.L363F UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376747.3_Intron|UGGT2_ENST00000376714.3_Intron Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1236 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 GACGACTTCTCAAATTCTTGA 0.269000 5 16 0 0 1 0 0 LGALS13 29124 broad.mit.edu 37 19 40095307 40095307 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:40095307C>G ENST00000221797.4 + 2 126 c.81C>G c.(79-81)atC>atG p.I27M NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 27 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GGACACCAATCCACTCTTTTA 0.463000 31 83 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30746281 30746281 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:30746281C>T ENST00000217315.5 + 15 1822 c.1482C>T c.(1480-1482)ttC>ttT p.F494F TM9SF4_ENST00000398022.2_Silent_p.F511F Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 511 integral to membrane p.F494F(1) central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTTGCCCTTCGGCGCCATGT 0.592000 65 67 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22283797 22283797 + Missense_Mutation SNP T T G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr11:22283797T>G ENST00000324559.8 + 16 2070 c.1753T>G c.(1753-1755)Tat>Gat p.Y585D CTD-3064C13.1_ENST00000526935.1_RNA NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 585 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTTCGTAGGCTATCCTGGAAA 0.363000 13 73 0 0 1 0 0 SMAD6 4091 broad.mit.edu 37 15 67073705 67073705 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:67073705C>T ENST00000288840.5 + 4 2354 c.1323C>T c.(1321-1323)ttC>ttT p.F441F SMAD6_ENST00000338426.4_Silent_p.F180F NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 441 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 TGTTCGACTTCGAGCGCTCGG 0.726000 32 37 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66038302 66038302 + Missense_Mutation SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:66038302C>A ENST00000537025.2 + 5 1024 c.404C>A c.(403-405)cCc>cAc p.P135H KPNA2_ENST00000330459.3_Missense_Mutation_p.P135H P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 135 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GATTGTAGTCCCATTCAGTTT 0.458000 32 193 2.85442e-18 3.13986e-18 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S 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 4 63 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417306 89417306 + RNA SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:89417306C>T ENST00000490686.1 - 0 29 CCCTCATGTCCATGCTGTGTC 0.547000 5 277 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61488812 61488812 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:61488812C>G ENST00000335351.3 - 4 1265 c.1173G>C c.(1171-1173)caG>caC p.Q391H TCFL5_ENST00000217162.5_Missense_Mutation_p.Q343H NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 391 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) GGGGCCCACTCTGGGCCTGCT 0.572000 71 99 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745833 140745833 + Missense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:140745833G>T ENST00000518069.1 + 1 1936 c.1936G>T c.(1936-1938)Gtc>Ttc p.V646F PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGTGGCCGTCGAAGACCA 0.652000 5 233 0.014758 0.0148254 1 1 0 KCNH3 23416 broad.mit.edu 37 12 49951242 49951242 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:49951242C>T ENST00000257981.6 + 15 3018 c.2758C>T c.(2758-2760)Cgg>Tgg p.R920W NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 920 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TCCGTGCCCTCGGGCATCGGG 0.677000 4 28 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91021105 91021105 + Nonsense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:91021105C>T ENST00000268182.5 + 26 3437 c.3313C>T c.(3313-3315)Cag>Tag p.Q1105* IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q533* NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1105 C1.|Ras-GAP. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GATGGAGTCTCAGACAGGAGA 0.373000 41 57 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140739726 140739726 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:140739726C>T ENST00000522605.1 + 1 24 c.24C>T c.(22-24)tgC>tgT p.C8C PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGGAGGTGCGGGCTGGTGC 0.582000 OREG0016857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 9 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745832 140745832 + Silent SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:140745832C>G ENST00000518069.1 + 1 1935 c.1935C>G c.(1933-1935)gcC>gcG p.A645A PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGGTGGCCGTCGAAGACC 0.657000 5 233 0 0 1 0 0 PRKRA 8575 broad.mit.edu 37 2 179296957 179296957 + Missense_Mutation SNP T T A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:179296957T>A ENST00000325748.4 - 8 1009 c.809A>T c.(808-810)tAt>tTt p.Y270F PRKRA_ENST00000432031.2_Missense_Mutation_p.Y259F|PRKRA_ENST00000438687.3_Missense_Mutation_p.Y157F|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000487082.1_Missense_Mutation_p.Y245F|AC009948.5_ENST00000415236.1_RNA|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000436616.2_RNA NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 270 DRBM 3.|Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) AAGACATTGATATTGTCCATT 0.428000 6 63 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57243854 57243854 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr11:57243854G>A ENST00000335099.3 + 3 1050 c.733G>A c.(733-735)Gag>Aag p.E245K NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 245 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GCTGCCCGGCGAGGCGCTCGC 0.731000 7 25 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228473993 228473993 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:228473993G>A ENST00000570156.2 + 39 10580 c.10506G>A c.(10504-10506)tcG>tcA p.S3502S OBSCN_ENST00000359599.6_Silent_p.S1920S|OBSCN_ENST00000422127.1_Silent_p.S3073S|OBSCN_ENST00000366707.4_Silent_p.S192S|OBSCN_ENST00000366709.4_Silent_p.S192S|OBSCN_ENST00000284548.11_Silent_p.S3073S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2535 Ig-like 35. 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) TCAAGGACTCGGGCACCATCT 0.647000 3 14 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137354722 137354722 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:137354722C>T ENST00000033079.3 - 3 530 c.79G>A c.(79-81)Gag>Aag p.E27K FAM13B_ENST00000425075.2_Intron|FAM13B_ENST00000420893.2_Missense_Mutation_p.E27K NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 27 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 TGCTGCAGCTCATCAAGTGGA 0.438000 55 28 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 4 22 0 0 1 0 0 TRAF5 7188 broad.mit.edu 37 1 211533413 211533413 + Missense_Mutation SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:211533413C>A ENST00000261464.5 + 5 592 c.538C>A c.(538-540)Cta>Ata p.L180I TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Missense_Mutation_p.L180I|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.L180I NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 180 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) AGTCATCAATCTACAGGTGAA 0.418000 28 28 1.50538e-07 1.58461e-07 1 1 0 TRBV7-7 28591 broad.mit.edu 37 7 142120047 142120047 + RNA SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:142120047G>A ENST00000390377.1 - 0 119 GATCACACCTGAGAGTTACAT 0.478000 16 52 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139905607 139905607 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:139905607C>T ENST00000297183.6 + 26 4643 c.4519C>T c.(4519-4521)Cct>Tct p.P1507S ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1507S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1507S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATAGAACCTCCTAGTGCAAC 0.388000 24 87 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11332352 11332352 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:11332352G>C ENST00000315872.6 - 32 4533 c.4085C>G c.(4084-4086)tCt>tGt p.S1362C ROCK2_ENST00000401753.1_Missense_Mutation_p.S1119C NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1362 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AGTTCTAGGAGATGATCGGGC 0.433000 54 190 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075751 145075751 + Nonsense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:145075751G>A ENST00000369359.4 - 1 150 c.112C>T c.(112-114)Cga>Tga p.R38* PDE4DIP_ENST00000369345.4_Nonsense_Mutation_p.R38*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R38*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.R38* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAGGGGTTCGCGTCGCGTCC 0.726000 T PDGFRB MPD 8 157 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656428 656428 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:656428C>T ENST00000380907.2 - 1 535 c.517G>A c.(517-519)Gcg>Acg p.A173T EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 173 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CCCACGTTCGCCATCCTCTCC 0.607000 15 130 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33459922 33459922 + Missense_Mutation SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr5:33459922G>C ENST00000265112.3 + 11 1517 c.1206G>C c.(1204-1206)gaG>gaC p.E402D TARS_ENST00000455217.2_Missense_Mutation_p.E435D|TARS_ENST00000414361.2_Missense_Mutation_p.E281D|TARS_ENST00000541634.1_Missense_Mutation_p.E298D|TARS_ENST00000502553.1_Missense_Mutation_p.E402D NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 402 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TTGAGGTGGAGAAGGAGCTGT 0.502000 30 116 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766393 88766393 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:88766393G>A ENST00000497649.2 + 6 679 c.301G>A c.(301-303)Ggg>Agg p.G101R MEPE_ENST00000361056.3_Missense_Mutation_p.G125R|MEPE_ENST00000540395.1_Missense_Mutation_p.G12R|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.G156R|MEPE_ENST00000560249.1_Missense_Mutation_p.G12R|MEPE_ENST00000424957.3_Missense_Mutation_p.G125R Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 125 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TGGGAATAAAGGGTTTGAGGA 0.383000 34 56 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516480 102516480 + RNA SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:102516480G>A ENST00000557932.1 + 0 1428 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGGGCTCCATGACACCTTCCC 0.637000 4 78 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37280725 37280725 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:37280725C>T ENST00000233099.5 - 17 2520 c.2425G>A c.(2425-2427)Gaa>Aaa p.E809K HEATR5B_ENST00000354531.2_Missense_Mutation_p.E809K NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 809 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TTAACACATTCAGCAAAGTGA 0.328000 12 25 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3582034 3582034 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr18:3582034C>T ENST00000315677.3 - 8 2399 c.1804G>A c.(1804-1806)Gcc>Acc p.A602T DLGAP1_ENST00000400149.3_Missense_Mutation_p.A292T|DLGAP1_ENST00000400147.2_Missense_Mutation_p.A300T|DLGAP1_ENST00000539435.1_Missense_Mutation_p.A310T|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A602T|DLGAP1_ENST00000581699.1_Missense_Mutation_p.A308T|DLGAP1_ENST00000400155.1_Missense_Mutation_p.A308T|DLGAP1_ENST00000400145.2_Missense_Mutation_p.A300T|DLGAP1_ENST00000534970.1_Missense_Mutation_p.A286T|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A602T|DLGAP1_ENST00000400150.3_Missense_Mutation_p.A318T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A602T NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 602 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GCTTCGATGGCGGCTGTCAGA 0.577000 25 46 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33030012 33030012 + Splice_Site SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:33030012G>C ENST00000374864.4 + 10 1082 c.e10-1 ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000262650.6_Splice_Site NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 TTGTATTTAAGTTGGGAGCAG 0.393000 12 45 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14794015 14794015 + Splice_Site SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:14794015C>G ENST00000261170.3 - 18 2205 c.e18+1 NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTTAGATGTACCATTCCGGTC 0.478000 14 44 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57911159 57911159 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:57911159G>A ENST00000366197.5 + 3 1754 c.1504G>A c.(1504-1506)Gag>Aag p.E502K AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.E514K NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCACAGTGAAGAGAGGCTTGT 0.418000 22 83 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144869906 144869906 + Silent SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:144869906G>T ENST00000367545.3 + 46 6726 c.6726G>T c.(6724-6726)ctG>ctT p.L2242L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2242 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCGACTGGCTGGTATTAATCG 0.413000 9 23 1.12685e-05 1.16388e-05 1 1 0 CLDN14 23562 broad.mit.edu 37 21 37833622 37833622 + Silent SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr21:37833622G>C ENST00000399137.1 - 3 1238 c.372C>G c.(370-372)ctC>ctG p.L124L CLDN14_ENST00000399139.1_Silent_p.L124L|CLDN14_ENST00000399135.1_Silent_p.L124L|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000342108.2_Silent_p.L124L|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Silent_p.L124L NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 124 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 CCAGGATGAAGAGGGTGCCGC 0.657000 34 121 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58578626 58578626 + Silent SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:58578626C>A ENST00000506786.1 + 5 1202 c.648C>A c.(646-648)acC>acA p.T216T ZNF135_ENST00000313434.5_Silent_p.T258T|ZNF135_ENST00000511556.1_Silent_p.T270T|ZNF135_ENST00000439855.2_Silent_p.T258T|ZNF135_ENST00000401053.4_Silent_p.T282T|ZNF135_ENST00000359978.6_Silent_p.T270T B4DHH9 B4DHH9_HUMAN zinc finger protein 135 270 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CGGCACTTACCAAACACCAGA 0.507000 48 197 2.46787e-29 2.7283e-29 1 1 0 TPCN1 53373 broad.mit.edu 37 12 113707634 113707634 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:113707634C>G ENST00000550785.1 + 8 1117 c.948C>G c.(946-948)atC>atG p.I316M TPCN1_ENST00000335509.6_Missense_Mutation_p.I244M|TPCN1_ENST00000392569.4_Missense_Mutation_p.I176M|TPCN1_ENST00000541517.1_Missense_Mutation_p.I316M NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 244 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCTTCATGATCATCTTTGCCA 0.572000 49 77 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129455523 129455523 + Missense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:129455523G>T ENST00000355497.5 + 4 669 c.662G>T c.(661-663)cGa>cTa p.R221L LMX1B_ENST00000373474.4_Missense_Mutation_p.R221L|LMX1B_ENST00000526117.1_Missense_Mutation_p.R221L|LMX1B_ENST00000561065.1_Missense_Mutation_p.R198L|LMX1B_ENST00000425646.2_Missense_Mutation_p.R198L NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 198 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 AGGCCCAAGCGACCCCGGACC 0.672000 Nail-Patella Syndrome 5 16 1.024e-07 1.08308e-07 1 1 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TPTE2P6_ENST00000440905.1_RNA TGAAACATCTCTACAACTGGA 0.343000 4 48 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27271920 27271920 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr15:27271920C>T ENST00000333743.6 + 3 476 c.222C>T c.(220-222)gaC>gaT p.D74D GABRG3_ENST00000555083.1_Silent_p.D74D NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 74 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCGTAATTGACGTTGACATTT 0.393000 3 23 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123207876 123207876 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:123207876T>C ENST00000264501.4 + 53 9591 c.9218T>C c.(9217-9219)aTa>aCa p.I3073T KIAA1109_ENST00000388738.3_Missense_Mutation_p.I3073T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I3073T Q2LD37 K1109_HUMAN KIAA1109 3073 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTGTGGAGTATAGATGAACTG 0.378000 16 57 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152265629 152265629 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:152265629C>T ENST00000440973.1 + 6 1452 c.1082C>T c.(1081-1083)gCg>gTg p.A361V ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.A361V|ESR1_ENST00000427531.2_Missense_Mutation_p.A188V|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.A361V|ESR1_ENST00000206249.3_Missense_Mutation_p.A361V|ESR1_ENST00000482101.1_3'UTR NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 361 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ATCAACTGGGCGAAGAGGGTG 0.478000 19 70 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403562 69403562 + Silent SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:69403562C>T ENST00000317746.2 - 6 1416 c.1374G>A c.(1372-1374)ctG>ctA p.L458L NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 458 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CTGCTCGATCCAGGGGCTTCA 0.418000 98 113 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56492632 56492632 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:56492632G>A ENST00000267101.3 + 23 3222 c.2782G>A c.(2782-2784)Gag>Aag p.E928K ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 928 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AGAGAAGGGGGAGCGGTTGGC 0.512000 28 78 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7639260 7639260 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:7639260C>T ENST00000359156.4 - 10 2495 c.2293G>A c.(2293-2295)Gcc>Acc p.A765T CD163_ENST00000541972.1_Missense_Mutation_p.A753T|CD163_ENST00000396620.3_Missense_Mutation_p.A798T|CD163_ENST00000432237.2_Missense_Mutation_p.A765T NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 765 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCATTAATGGCCTCTCCACAG 0.532000 80 176 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135498612 135498612 + Splice_Site SNP G G C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chrX:135498612G>C ENST00000394143.1 + 26 9496 c.e26-1 GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site|GPR112_ENST00000394141.1_Splice_Site NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTTACTGCAGATGACTTTGA 0.313000 11 28 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64136649 64136649 + Missense_Mutation SNP A A T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:64136649A>T ENST00000395254.3 + 2 977 c.697A>T c.(697-699)Agg>Tgg p.R233W ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.R233W|ZNF365_ENST00000395255.3_Missense_Mutation_p.R233W NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) AGCTGTACTGAGGCAACGCCT 0.507000 65 16 0 0 1 0 0 TRMT6 51605 broad.mit.edu 37 20 5923388 5923388 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:5923388G>A ENST00000203001.2 - 7 842 c.712C>T c.(712-714)Cgg>Tgg p.R238W TRMT6_ENST00000453074.2_Missense_Mutation_p.R68W|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 238 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 GTTGCTGCCCGAACAGGTCCT 0.428000 38 212 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512107 4512107 + Missense_Mutation SNP G G T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:4512107G>T ENST00000301286.3 - 3 1822 c.1823C>A c.(1822-1824)aCc>aAc p.T608N NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 608 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 AGTTTTGGTGGTGTCCATGCC 0.592000 6 439 0.00116845 0.00117917 1 1 0 CEP112 201134 broad.mit.edu 37 17 64024480 64024480 + Nonsense_Mutation SNP A A C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:64024480A>C ENST00000392769.2 - 15 1765 c.1547T>G c.(1546-1548)tTa>tGa p.L516* CEP112_ENST00000541355.1_Nonsense_Mutation_p.L151*|CEP112_ENST00000535342.2_Nonsense_Mutation_p.L516*|CEP112_ENST00000537949.1_Nonsense_Mutation_p.L474* NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 516 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 CTGCTGTTTTAATTGACAGAC 0.318000 55 42 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51580916 51580916 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr10:51580916G>A ENST00000452682.1 + 5 619 c.367G>A c.(367-369)Gag>Aag p.E123K NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000443446.1_Missense_Mutation_p.E107K|NCOA4_ENST00000438493.1_Missense_Mutation_p.E123K|NCOA4_ENST00000344348.6_Missense_Mutation_p.E107K|NCOA4_ENST00000374087.4_Missense_Mutation_p.E107K|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.E107K|NCOA4_ENST00000498586.1_3'UTR NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 107 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 TCATCAACTGGAGTGTACCCA 0.388000 T RET papillary thyroid 15 2 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100201315 100201315 + Missense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr4:100201315C>T ENST00000209668.2 - 7 1063 c.950G>A c.(949-951)gGa>gAa p.G317E RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 317 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) AAGAATAGCTCCCTTCCAGGT 0.468000 113 169 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42937886 42937886 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:42937886G>A ENST00000426333.2 - 17 1930 c.1633C>T c.(1633-1635)Cct>Tct p.P545S EFTUD2_ENST00000591382.1_Missense_Mutation_p.P545S|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P535S|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P510S NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 545 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TTGCCAGCAGGAACACGGTTC 0.428000 19 46 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193332657 193332657 + Nonsense_Mutation SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:193332657C>T ENST00000361510.2 + 2 412 c.178C>T c.(178-180)Cag>Tag p.Q60* OPA1_ENST00000361715.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000392438.3_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.Q60*|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Nonsense_Mutation_p.Q60*|OPA1_ENST00000361828.2_Nonsense_Mutation_p.Q60* NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 60 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) gacatcctttcagcagttctc 0.393000 13 34 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887583 131887583 + Missense_Mutation SNP T T C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:131887583T>C ENST00000359827.3 - 12 3370 c.2408A>G c.(2407-2409)aAg>aGg p.K803R PLXNA4_ENST00000321063.4_Missense_Mutation_p.K803R Q9HCM2 PLXA4_HUMAN plexin A4 803 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGCTCCACACTTGTAGAGGTG 0.632000 4 21 0 0 1 0 0 BZW1 9689 broad.mit.edu 37 2 201683058 201683058 + Missense_Mutation SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:201683058G>A ENST00000409600.1 + 8 1216 c.761G>A c.(760-762)cGt>cAt p.R254H BZW1_ENST00000452790.2_Missense_Mutation_p.R286H|BZW1_ENST00000409226.1_Missense_Mutation_p.R258H NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 254 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 ATCGGAGCTCGTAAGGAGCTC 0.403000 14 12 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480630 95480630 + RNA SNP C C T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:95480630C>T ENST00000432432.2 - 0 2730 NR_040113.1 gccccagccccttgcaaacat 0.393000 4 11 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217209 150217209 + Missense_Mutation SNP A A C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr7:150217209A>C ENST00000313543.4 + 2 304 c.147A>C c.(145-147)aaA>aaC p.K49N NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 49 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTGTCAAAAAGCATCCCGGG 0.498000 6 75 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 27 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219688987 219688987 + Silent SNP G G A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:219688987G>A ENST00000439262.2 - 12 1331 c.1236C>T c.(1234-1236)caC>caT p.H412H PRKAG3_ENST00000545803.1_Silent_p.H253H|PRKAG3_ENST00000529249.1_Silent_p.H437H NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 437 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAAGCTCTCGTGGGGCTGGC 0.582000 4 25 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30338215 30338215 + Missense_Mutation SNP C C G TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr21:30338215C>G ENST00000389194.2 - 11 2278 c.2273G>C c.(2272-2274)tGg>tCg p.W758S LTN1_ENST00000389195.2_Missense_Mutation_p.W758S|LTN1_ENST00000361371.5_Missense_Mutation_p.W712S NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 712 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AAGAGAATTCCATTTCAAGTC 0.308000 6 14 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491776 151491777 + Frame_Shift_Del DEL AG AG - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:151491776_151491777delAG ENST00000271636.7 + 2 914_915 c.781_782delAG c.(781-783)agtfs p.S261fs NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 255 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAGTCCTCTCAGTGGCTTTAGC 0.584 9 187 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)ctgcta>cta p.19_20LL>L NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 19 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 7 179 --- --- --- --- ANKRD20A8P 729171 broad.mit.edu 37 2 95515230 95515230 + RNA DEL A A - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr2:95515230delA ENST00000432432.2 - 0 605 NR_040113.1 TCTGCCTTGCAAACAACCCTC 0.438 2 4 --- --- --- --- CAMK1 8536 broad.mit.edu 37 3 9803349 9803350 + Frame_Shift_Del DEL CA CA - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:9803349_9803350delCA ENST00000256460.3 - 6 698_699 c.521_522delTG c.(520-522)gtgfs p.V174fs OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 174 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CGGTGGAGAGCACACTGCCCGG 0.589 15 91 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89448632 89448633 + Frame_Shift_Del DEL TA TA - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr3:89448632_89448633delTA ENST00000452448.2 + 7 1683_1684 c.1596_1597delTA c.(1594-1599)tgtatgfs p.M533fs EPHA3_ENST00000494014.1_Splice_Site|EPHA3_ENST00000336596.2_Splice_Site NM_182644.2 NP_872585.1 P29320 EPHA3_HUMAN EPH receptor A3 0 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTCCAGACTGTATGTATTATTT 0.426 TSP Lung(6;0.00050) 18 47 --- --- --- --- HIST1H1E 3008 broad.mit.edu 37 6 26156678 26156680 + In_Frame_Del DEL GAA GAA - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr6:26156678_26156680delGAA ENST00000304218.3 + 1 120_122 c.60_62delGAA c.(58-63)gtgaag>gtg p.K23del NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 23 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AGACTCCCGTGAAGAAGAAGGCC 0.650 37 213 --- --- --- --- TNFRSF10C 8794 broad.mit.edu 37 8 22969274 22969275 + Frame_Shift_Ins INS - - C TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr8:22969274_22969275insC ENST00000356864.3 + 2 634_635 c.102_103insC c.(103-105)cccfs p.P35fs TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron NM_003841.3 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 35 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) AGGAGGAAGTTCCCCAGCAGAC 0.535 12 35 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)caccat>cat p.207_208HH>H MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 5 3 --- --- --- --- TSTD2 158427 broad.mit.edu 37 9 100372706 100372722 + Frame_Shift_Del DEL GAAAACAGTGAGCTCCT GAAAACAGTGAGCTCCT - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr9:100372706_100372722delGAAAACAGTGAGCTCCT ENST00000341170.4 - 6 1123_1139 c.741_757delAGGAGCTCACTGTTTTC c.(739-759)ggaggagctcactgttttccafs p.GAHCFP248fs TSTD2_ENST00000354801.2_Intron NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 248 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 CGCAATTCTGGAAAACAGTGAGCTCCTCCTTTGCTGG 0.429 14 34 --- --- --- --- CSAD 51380 broad.mit.edu 37 12 53553938 53553939 + Frame_Shift_Ins INS - - T TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr12:53553938_53553939insT ENST00000267085.4 - 14 1445_1446 c.1212_1213insA c.(1210-1215)ctggagfs p.E405fs RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000444623.1_Frame_Shift_Ins_p.E378fs|CSAD_ENST00000379843.3_Frame_Shift_Ins_p.E231fs|CSAD_ENST00000379846.1_Frame_Shift_Ins_p.E231fs|CSAD_ENST00000453446.2_Frame_Shift_Ins_p.E378fs NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 378 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) ATGCGCCGCTCCAGCCCTTGAT 0.649 OREG0021859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 81 --- --- --- --- NID2 22795 broad.mit.edu 37 14 52520521 52520522 + Frame_Shift_Del DEL TC TC - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr14:52520521_52520522delTC ENST00000216286.5 - 5 1203_1204 c.1204_1205delGA c.(1204-1206)gatfs p.D402fs NID2_ENST00000541773.1_Frame_Shift_Del_p.D349fs NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 402 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AGCCAGTGAATCTCTGTCTACC 0.564 29 66 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9984931 9984931 + Frame_Shift_Del DEL C C - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr16:9984931delC ENST00000396573.2 - 5 1343 c.1034delG c.(1033-1035)ggcfs p.G345fs GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.G345fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.G345fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.G345fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.G345fs|GRIN2A_ENST00000535259.1_Frame_Shift_Del_p.G188fs NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 345 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAAGTCTTTGCCATCCCATGT 0.448 333 65 --- --- --- --- KRTAP2-4 85294 broad.mit.edu 37 17 39221759 39221773 + In_Frame_Del DEL GCAGGGGGGCCGGCA GCAGGGGGGCCGGCA - rs349782 by1000genomes TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:39221759_39221773delGCAGGGGGGCCGGCA ENST00000394015.2 - 1 358_372 c.325_339delTGCCGGCCCCCCTGC c.(325-339)tgccggcccccctgcdel p.CRPPC109del NM_033184.3 NP_149440.1 Q9BYR9 KRA24_HUMAN keratin associated protein 2-4 109 10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV]. keratin filament skin(1) 1 Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204) STAD - Stomach adenocarcinoma(17;0.000371) TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC 0.660 3 5 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)gagdel p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 7 288 --- --- --- --- CEP192 55125 broad.mit.edu 37 18 13087586 13087587 + Frame_Shift_Del DEL AG AG - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr18:13087586_13087587delAG ENST00000506447.1 + 32 6014_6015 c.5934_5935delAG c.(5932-5937)acagaafs p.E1979fs CEP192_ENST00000325971.8_Frame_Shift_Del_p.E1383fs|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Frame_Shift_Del_p.E1504fs NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1574 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAACTGCAACAGAACTATCAAC 0.312 17 60 --- --- --- --- RPL17-C18orf32 100526842 broad.mit.edu 37 18 47017211 47017212 + Frame_Shift_Del DEL CT CT - TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr18:47017211_47017212delCT ENST00000584895.1 - 3 181_182 c.167_168delAG c.(166-168)cagfs p.Q56fs RPL17-C18orf32_ENST00000332968.6_Frame_Shift_Del_p.Q18fs|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000580261.1_Frame_Shift_Del_p.Q56fs|RPL17_ENST00000580210.1_Frame_Shift_Del_p.Q46fs|RPL17_ENST00000579408.1_Frame_Shift_Del_p.Q56fs|RPL17_ENST00000579248.1_Frame_Shift_Del_p.Q56fs|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000418495.1_Frame_Shift_Del_p.Q56fs|RPL17_ENST00000581373.1_Frame_Shift_Del_p.Q18fs NM_001199355.1|NM_001199356.1 NP_001186284.1|NP_001186285.1 ATGGTACACACTGTTTCTGTAA 0.411 18 82 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gatggcgacagcgag>gag p.DGDS489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDS489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 2 4 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555322 37555323 + In_Frame_Ins INS - - GCG TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx d81e9174-a1c0-469b-9ab6-1b2e8622a646 6d78964f-aa0d-4062-980d-db9e8ca784c1 g.chr20:37555322_37555323insGCG ENST00000217429.4 + 1 368_369 c.327_328insGCG c.(328-330)gcg>GCGgcg p.110_110A>AA NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 80 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GAGAGGAGGGCgcggcggcggc 0.718 3 4 --- --- --- ---