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 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 45 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29195371 29195371 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:29195371G>C ENST00000321990.4 + 12 3632 c.3254G>C c.(3253-3255)aGa>aCa p.R1085T NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1085 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GACTGGAAAAGAAGAGCTGAA 0.328000 9 30 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 20 0 0 1 0 0 PEX26 55670 broad.mit.edu 37 22 18570817 18570817 + Silent SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr22:18570817C>G ENST00000329627.6 + 6 1100 c.894C>G c.(892-894)ctC>ctG p.L298L PEX26_ENST00000428061.2_Silent_p.L249L|PEX26_ENST00000399744.3_Silent_p.L298L NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 298 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TTTCTCGCCTCTACCAGCTCC 0.617000 15 114 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76556067 76556067 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr16:76556067C>T ENST00000307431.8 + 18 3050 c.2665C>T c.(2665-2667)Ctt>Ttt p.L889F CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L841F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L893F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L817F NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 890 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGAGGCCTCCCTTCAAGTGGA 0.537000 36 69 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38336828 38336828 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr22:38336828C>T ENST00000215957.6 + 16 2709 c.2583C>T c.(2581-2583)gaC>gaT p.D861D MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 861 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) CCCCCAGAGACAAGAGCTAAC 0.562000 8 39 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10222295 10222295 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:10222295C>T ENST00000418404.3 - 26 3713 c.3550G>A c.(3550-3552)Gag>Aag p.E1184K MYH13_ENST00000252172.4_Missense_Mutation_p.E1184K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1184K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1184 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGGGTGGCCTCCTCCAGGTCC 0.592000 14 118 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691315 153691315 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr4:153691315C>T ENST00000304337.2 - 2 1662 c.842G>A c.(841-843)cGa>cAa p.R281Q NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 281 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) CACCACTCTTCGTTGCTGGGC 0.403000 7 101 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160760 12160760 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr10:12160760C>T ENST00000263035.4 + 15 2477 c.2415C>T c.(2413-2415)ctC>ctT p.L805L NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 805 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTAAGACCCTCGTGTTCTGCT 0.473000 70 154 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36639940 36639940 + Missense_Mutation SNP A A T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr20:36639940A>T ENST00000373448.2 - 3 2517 c.2279T>A c.(2278-2280)cTg>cAg p.L760Q TTI1_ENST00000373447.3_Missense_Mutation_p.L760Q|TTI1_ENST00000449821.1_Missense_Mutation_p.L760Q NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 760 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CAGAGCATGCAGAACGCTGAC 0.478000 10 18 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144178465 144178465 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:144178465C>T ENST00000367576.5 + 5 557 c.423C>T c.(421-423)gaC>gaT p.D141D NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 141 Asp-rich. breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) TTGATCCTGACATTGTTGCAG 0.378000 11 260 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612534 44612534 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:44612534C>T ENST00000273320.3 + 6 2361 c.1932C>T c.(1930-1932)ttC>ttT p.F644F ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.F644F NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 GAAAATCCTTCAATCAAAACT 0.418000 21 24 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43400430 43400430 + Missense_Mutation SNP T T A rs143701970 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:43400430T>A ENST00000244533.3 + 1 942 c.583T>A c.(583-585)Tgt>Agt p.C195S ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.C238S NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 238 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCGTGGGGCCTGTGGAGAGCT 0.642000 5 94 0 0 1 0 0 FBXO33 254170 broad.mit.edu 37 14 39870602 39870602 + Missense_Mutation SNP T T C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr14:39870602T>C ENST00000298097.7 - 3 1511 c.1174A>G c.(1174-1176)Ata>Gta p.I392V FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 392 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TCTAGTGGTATACTGGGTTTC 0.388000 18 49 0 0 1 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27114996 27114996 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:27114996G>A ENST00000377459.1 + 1 136 c.89G>A c.(88-90)cGa>cAa p.R30Q NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 30 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 CCCGTGGGCCGAGTGCACCGC 0.642000 5 79 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165552193 165552193 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:165552193G>C ENST00000375458.2 - 11 1930 c.1709C>G c.(1708-1710)aCt>aGt p.T570S COBLL1_ENST00000342193.4_Missense_Mutation_p.T608S|COBLL1_ENST00000392717.2_Missense_Mutation_p.T646S|COBLL1_ENST00000194871.6_Missense_Mutation_p.T675S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T608S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 646 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 AGCAGTATCAGTTTCATGTGC 0.378000 71 196 0 0 1 0 0 GEN1 348654 broad.mit.edu 37 2 17962391 17962391 + Missense_Mutation SNP A A G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:17962391A>G ENST00000381254.2 + 14 2126 c.1912A>G c.(1912-1914)Agg>Ggg p.R638G SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R638G NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 638 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGAATCAGAAAGGTACACTGC 0.383000 Homologous recombination 11 48 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981899 7981899 + Silent SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:7981899C>A ENST00000328600.2 - 2 1421 c.1260G>T c.(1258-1260)ggG>ggT p.G420G NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 420 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGTGCTGAATCCCTTCAGCTG 0.542000 13 63 7.03913e-09 7.65569e-09 1 1 0 SEPT11 55752 broad.mit.edu 37 4 77940386 77940386 + Silent SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr4:77940386C>A ENST00000264893.6 + 6 957 c.756C>A c.(754-756)gcC>gcA p.A252A SEPT11_ENST00000502584.1_Silent_p.A252A|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Silent_p.A262A|SEPT11_ENST00000510515.1_Silent_p.A262A|SEPT11_ENST00000505788.1_Silent_p.A252A NM_018243.2 NP_060713.1 Q9NVA2 SEP11_HUMAN septin 11 252 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 11 TGGCAAAGGCCAGGCAGTACC 0.502000 3 7 0.150653 0.150653 1 1 0 CCDC91 55297 broad.mit.edu 37 12 28459840 28459840 + Missense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:28459840C>A ENST00000545336.1 + 8 852 c.433C>A c.(433-435)Ctc>Atc p.L145I CCDC91_ENST00000381256.1_Missense_Mutation_p.L145I|CCDC91_ENST00000539107.1_Missense_Mutation_p.L145I|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.L115I|CCDC91_ENST00000381259.1_Missense_Mutation_p.L145I Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 145 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GGAGATTAAACTCAAAGTATC 0.318000 9 48 1.12685e-05 1.19079e-05 1 1 0 RAX 30062 broad.mit.edu 37 18 56939749 56939749 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr18:56939749C>G ENST00000334889.3 - 2 573 c.387G>C c.(385-387)gaG>gaC p.E129D RAX_ENST00000256852.7_Intron NM_013435.2 NP_038463.2 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 129 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) TGGGCTGTTCCTCCTCTGACA 0.667000 16 61 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 960882 960882 + Missense_Mutation SNP T T A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:960882T>A ENST00000340908.4 + 1 24 c.24T>A c.(22-24)ttT>ttA p.F8L WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000540360.1_Intron Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AGAAAGATTTTTGCTCAGTAT 0.338000 6 16 0 0 1 0 0 EGLN3 112399 broad.mit.edu 37 14 34419917 34419917 + Missense_Mutation SNP A A C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr14:34419917A>C ENST00000547327.2 - 1 370 c.42T>G c.(40-42)atT>atG p.I14M EGLN3_ENST00000250457.3_Missense_Mutation_p.I14M|EGLN3_ENST00000553215.1_Missense_Mutation_p.I14M Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 14 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) ACTCCAGGGCAATTTTCTCCA 0.617000 23 43 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668475 176668475 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:176668475C>T ENST00000367662.3 + 8 4150 c.2986C>T c.(2986-2988)Ctg>Ttg p.L996L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 996 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTCAGTGCACCTGGGCCCCTT 0.532000 76 138 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70045062 70045062 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr10:70045062G>A ENST00000432941.1 - 9 999 c.797C>T c.(796-798)tCg>tTg p.S266L PBLD_ENST00000336578.1_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000358769.2_Intron|PBLD_ENST00000309049.4_Intron NM_001033083.1 NP_001028255.1 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 0 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CACTAGCTTCGAATTAGGCAA 0.398000 19 34 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68074073 68074073 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:68074073C>T ENST00000262210.5 + 20 2582 c.2551C>T c.(2551-2553)Cct>Tct p.P851S CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.P506S NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 886 Glu-rich. centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TCCTATAGTTCCTGCTCTTCA 0.358000 40 95 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197444966 197444966 + Translation_Start_Site SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:197444966G>A ENST00000273582.5 - 0 466 KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CTCCACCGTCGTCTTCAAATT 0.502000 9 50 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102650335 102650335 + Silent SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:102650335G>A ENST00000279441.4 - 2 283 c.247C>T c.(247-249)Ctg>Ttg p.L83L NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 83 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) ATCACCTCCAGAGTGTCAGTG 0.483000 24 17 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10106792 10106792 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:10106792G>A ENST00000264828.3 - 15 1568 c.1483C>T c.(1483-1485)Ctc>Ttc p.L495F CTD-2553C6.1_ENST00000592332.1_RNA NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 495 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TGCCCGGGGAGACCCTTGGGG 0.592000 15 122 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64536774 64536774 + Nonsense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:64536774C>A ENST00000377390.3 - 7 1037 c.700G>T c.(700-702)Gag>Tag p.E234* SF1_ENST00000334944.5_Nonsense_Mutation_p.E234*|SF1_ENST00000377387.1_Nonsense_Mutation_p.E359*|SF1_ENST00000433274.2_Nonsense_Mutation_p.E208*|SF1_ENST00000227503.9_Nonsense_Mutation_p.E234*|SF1_ENST00000377394.3_Nonsense_Mutation_p.E234*|SF1_ENST00000422298.2_Nonsense_Mutation_p.E119*|SF1_ENST00000489544.1_5'UTR NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 234 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TTCTGGTCCTCTGGAGTCTCG 0.478000 29 95 2.2171e-23 2.42903e-23 1 1 0 PCDHGC4 56098 broad.mit.edu 37 5 140865344 140865344 + Nonsense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr5:140865344C>T ENST00000306593.1 + 1 604 c.604C>T c.(604-606)Cga>Tga p.R202* PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTTTGGATCGAGAGAAGCA 0.597000 5 39 0 0 1 0 0 IFNA4 3441 broad.mit.edu 37 9 21187008 21187008 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr9:21187008G>A ENST00000421715.1 - 1 590 c.523C>T c.(523-525)Ctc>Ttc p.L175F NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 175 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAAAACGAGAGGGATCTCATG 0.398000 6 132 0 0 1 0 0 FASTKD2 22868 broad.mit.edu 37 2 207631831 207631831 + Missense_Mutation SNP A A C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:207631831A>C ENST00000236980.6 + 2 762 c.414A>C c.(412-414)gaA>gaC p.E138D FASTKD2_ENST00000403094.3_Missense_Mutation_p.E138D|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E138D NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 138 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) TTAATCATGAAGTCTCCAATG 0.363000 11 68 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:135784313T>C ENST00000367800.4 - 6 1097 c.881A>G c.(880-882)cAa>cGa p.Q294R AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 294 adherens junction|cilium|microtubule basal body p.Q294R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313000 5 67 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9668007 9668007 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:9668007G>A ENST00000310823.3 - 5 709 c.527C>T c.(526-528)tCa>tTa p.S176L ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 176 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CTGCAAACGTGAAACATTCTT 0.343000 24 35 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129148036 129148036 + Missense_Mutation SNP A A G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chrX:129148036A>G ENST00000540052.1 + 3 1332 c.1288A>G c.(1288-1290)Atg>Gtg p.M430V BCORL1_ENST00000218147.7_Missense_Mutation_p.M430V|BCORL1_ENST00000303743.5_Missense_Mutation_p.M430V|BCORL1_ENST00000359304.2_Missense_Mutation_p.M430V NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 430 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GGCACCAGCTATGCAAAAAGT 0.602000 24 9 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21487589 21487589 + Missense_Mutation SNP A A G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr18:21487589A>G ENST00000313654.9 + 53 7035 c.6794A>G c.(6793-6795)aAt>aGt p.N2265S LAMA3_ENST00000399516.3_Missense_Mutation_p.N2209S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N656S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N600S NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2265 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAGACACCAATCTCACAACT 0.408000 63 105 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 375821 375821 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:375821C>T ENST00000342640.4 - 1 192 c.150G>A c.(148-150)ctG>ctA p.L50L THEG_ENST00000346878.2_Silent_p.L50L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 50 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) CTGCATTGTCCAGGTCCTGGC 0.672000 27 55 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26888134 26888134 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:26888134G>C ENST00000374168.2 + 17 1724 c.1570G>C c.(1570-1572)Gag>Cag p.E524Q RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508Q NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 524 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CAAAACTGTGGAGTATCTGCA 0.582000 6 69 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805489 54805489 + Missense_Mutation SNP A A G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:54805489A>G ENST00000306858.7 + 5 1836 c.1720A>G c.(1720-1722)Agt>Ggt p.S574G NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 574 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCTCAGGGAAGTGAGACACC 0.443000 16 34 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216367 8216367 + Silent SNP G G A rs150417950 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:8216367G>A ENST00000361926.3 + 3 839 c.729G>A c.(727-729)ccG>ccA p.P243P ARHGEF15_ENST00000421050.1_Silent_p.P243P NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 243 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GGGCCTCCCCGCTGCGGACCT 0.697000 38 82 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25434176 25434176 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr20:25434176C>T ENST00000278886.6 - 24 4133 c.4060G>A c.(4060-4062)Gcc>Acc p.A1354T NINL_ENST00000422516.1_Missense_Mutation_p.A1005T|NINL_ENST00000464285.1_5'UTR NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1354 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGTTTCTCGGCGCCTCGCTGC 0.547000 30 35 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49513116 49513116 + Silent SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:49513116G>C ENST00000413176.2 + 7 1559 c.411G>C c.(409-411)ctG>ctC p.L137L RUVBL2_ENST00000595090.1_Silent_p.L182L|RUVBL2_ENST00000601968.1_Silent_p.L137L Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 182 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) TTGAGTCCCTGACCAAGGACA 0.612000 9 109 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48842559 48842559 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:48842559C>G ENST00000314191.2 - 18 1962 c.1906G>C c.(1906-1908)Gag>Cag p.E636Q PRKDC_ENST00000338368.3_Missense_Mutation_p.E636Q|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 636 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCTTGTTTCTCAGGGAGAATC 0.323000 Non-homologous end-joining 4 44 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805265 22805265 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr18:22805265C>T ENST00000361524.3 - 4 2765 c.2617G>A c.(2617-2619)Gat>Aat p.D873N ZNF521_ENST00000584787.1_Missense_Mutation_p.D653N|ZNF521_ENST00000538137.2_Missense_Mutation_p.D873N NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 873 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCGCTCCCATCGTGACTGTTG 0.527000 T PAX5 ALL 25 59 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9463337 9463337 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:9463337G>C ENST00000281419.3 + 6 898 c.558G>C c.(556-558)gaG>gaC p.E186D ASAP2_ENST00000315273.4_Missense_Mutation_p.E186D NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 186 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TTGCCGAAGAGATGGAAAAGG 0.537000 34 107 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4923965 4923965 + Missense_Mutation SNP G G T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:4923965G>T ENST00000320785.5 + 20 2286 c.1929G>T c.(1927-1929)atG>atT p.M643I KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 643 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 AGCTGGAAATGGAGAAGAGGT 0.632000 6 38 3.59834e-05 3.74932e-05 1 1 0 ZNF584 201514 broad.mit.edu 37 19 58926999 58926999 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:58926999G>C ENST00000306910.4 + 3 801 c.278G>C c.(277-279)aGa>aCa p.R93T ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.R85T|ZNF584_ENST00000593920.1_Missense_Mutation_p.R48T|ZNF584_ENST00000599238.1_Missense_Mutation_p.R48T NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) GAAGCCAGGAGAGGTTTTGGT 0.542000 5 42 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409531 28409531 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr10:28409531C>G ENST00000337532.5 - 10 958 c.682G>C c.(682-684)Gaa>Caa p.E228Q MPP7_ENST00000540098.1_Missense_Mutation_p.E228Q|MPP7_ENST00000375732.1_Missense_Mutation_p.E228Q|MPP7_ENST00000445954.2_Missense_Mutation_p.E103Q|MPP7_ENST00000375719.3_Missense_Mutation_p.E228Q NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 228 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ACCTTGCCTTCTTTTGATGGT 0.388000 11 35 0 0 1 0 0 ECHDC1 55862 broad.mit.edu 37 6 127611032 127611032 + Missense_Mutation SNP T T A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:127611032T>A ENST00000531967.1 - 6 1409 c.906A>T c.(904-906)aaA>aaT p.K302N ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.K279N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.K296N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.K221N NM_001139510.1 NP_001132982.1 Q9NTX5 ECHD1_HUMAN enoyl CoA hydratase domain containing 1 302 catalytic activity large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) TAAATTTTCCTTTCTTAGCAA 0.343000 32 53 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37011806 37011806 + Missense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr13:37011806C>A ENST00000418263.1 + 3 685 c.335C>A c.(334-336)gCc>gAc p.A112D CCNA1_ENST00000255465.4_Missense_Mutation_p.A113D|CCNA1_ENST00000449823.1_Missense_Mutation_p.A69D|CCNA1_ENST00000440264.1_Missense_Mutation_p.A69D|CCNA1_ENST00000463403.1_3'UTR NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 113 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TCAGAAAATGCCTTCCCTCCA 0.478000 6 116 3.59834e-05 3.74932e-05 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63447862 63447862 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr14:63447862G>A ENST00000322893.7 - 6 938 c.670C>T c.(670-672)Ctt>Ttt p.L224F KCNH5_ENST00000420622.2_Missense_Mutation_p.L224F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L166F|KCNH5_ENST00000394964.2_Missense_Mutation_p.L166F NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 224 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TAGAAGGTAAGAATTAAAATC 0.388000 5 36 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134072467 134072467 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:134072467G>A ENST00000427060.2 - 1 136 c.59C>T c.(58-60)cCc>cTc p.P20L SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron NM_006748.3 NP_006739.2 Q13239 SLAP1_HUMAN Src-like-adaptor 0 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GAGACAGACGGGGAAAGTCAA 0.547000 12 40 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139085612 139085612 + Missense_Mutation SNP A A G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:139085612A>G ENST00000333188.5 - 15 1863 c.1682T>C c.(1681-1683)aTg>aCg p.M561T COPB2_ENST00000507777.1_Missense_Mutation_p.M532T NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 561 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 TAGGAGATACATCGTCCTATA 0.408000 27 76 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79973010 79973010 + Silent SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:79973010G>A ENST00000306729.7 + 13 1510 c.1413G>A c.(1411-1413)ctG>ctA p.L471L ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 481 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AACGGTGCCTGGGACCAGAGC 0.627000 T TFE3 alveolar soft part sarcoma 7 36 0 0 1 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859652 31859652 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr21:31859652C>T ENST00000334055.3 - 1 103 c.16G>A c.(16-18)Ggc>Agc p.G6S NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 6 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CATCCACAGCCGTAGCCATAG 0.567000 39 74 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196309663 196309663 + Missense_Mutation SNP T T C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:196309663T>C ENST00000367433.5 - 16 1692 c.1591A>G c.(1591-1593)Aat>Gat p.N531D KCNT2_ENST00000367431.4_Missense_Mutation_p.N481D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142D|KCNT2_ENST00000294725.8_Missense_Mutation_p.N531D Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 531 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ATGTTTTTATTATCCTCCCTC 0.303000 12 59 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809319 48809319 + Missense_Mutation SNP G G A rs150634127 by1000genomes TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:48809319G>A ENST00000309835.3 + 1 1557 c.1547G>A c.(1546-1548)cGt>cAt p.R516H STON1_ENST00000406226.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R516H|STON1_ENST00000404752.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R516H stonin 1 p.R516H(2) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAGCTGATGCGTTTCAAGACT 0.413000 5 89 0 0 1 0 0 CDCA8 55143 broad.mit.edu 37 1 38158641 38158641 + Silent SNP C C T rs142159015 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:38158641C>T ENST00000373055.1 + 2 432 c.159C>T c.(157-159)ctC>ctT p.L53L CDCA8_ENST00000327331.2_Silent_p.L53L NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 53 Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGATAACCTCTACAACATCG 0.577000 6 53 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159672550 159672550 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:159672550G>A ENST00000297267.9 + 17 5251 c.5051G>A c.(5050-5052)gGa>gAa p.G1684E FNDC1_ENST00000340366.6_Missense_Mutation_p.G1621E NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1684 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCACCCCAGGAGATGTGGTC 0.537000 5 12 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47470066 47470066 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:47470066C>T ENST00000265565.5 - 4 759 c.347G>A c.(346-348)cGt>cAt p.R116H SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 116 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CAAAGGTGAACGAAATACATC 0.557000 33 55 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258578 16258578 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:16258578C>T ENST00000375759.3 + 11 6047 c.5843C>T c.(5842-5844)cCt>cTt p.P1948L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1948 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCCACCACCCCTCGGAGGGGA 0.592000 35 50 0 0 1 0 0 NINJ2 4815 broad.mit.edu 37 12 675029 675029 + Missense_Mutation SNP T T C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:675029T>C ENST00000433832.2 - 2 441 c.241A>G c.(241-243)Att>Gtt p.I81V NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000542920.1_Intron Q9NZG7 NINJ2_HUMAN ninjurin 2 0 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CCTGTGCCAATGCAGGGTGGC 0.657000 12 13 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2760764 2760764 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:2760764C>G ENST00000344100.3 + 32 3970 c.3970C>G c.(3970-3972)Ctt>Gtt p.L1324V CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000347598.4_Intron Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1363 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCACCCCCCTCTTGCTGTGCT 0.602000 4 90 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 645442 645442 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:645442C>G ENST00000266383.5 + 3 345 c.332C>G c.(331-333)cCt>cGt p.P111R NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 111 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGGAACAAGCCTGTCCCCTGG 0.448000 33 45 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813759 2813759 + Missense_Mutation SNP G G C rs149404678 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr16:2813759G>C ENST00000301740.8 + 11 3779 c.3230G>C c.(3229-3231)aGa>aCa p.R1077T NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1077 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCAGAAGTGAGACAGAGTCAT 0.483000 4 89 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47514744 47514744 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr4:47514744G>A ENST00000273859.3 + 2 456 c.187G>A c.(187-189)Gag>Aag p.E63K ATP10D_ENST00000504445.1_Missense_Mutation_p.E63K NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 63 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTTCAAGGATGAGTATGAGAA 0.458000 4 52 0 0 1 0 0 HSD17B6 8630 broad.mit.edu 37 12 57181028 57181028 + Missense_Mutation SNP G G T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:57181028G>T ENST00000554643.1 + 6 1205 c.856G>T c.(856-858)Gat>Tat p.D286Y HSD17B6_ENST00000322165.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000554150.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555805.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555159.1_Missense_Mutation_p.D286Y O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 286 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) AGCTGGCTGGGATGCTAAATT 0.468000 11 41 3.86212e-05 3.99622e-05 1 1 0 DHRS7B 25979 broad.mit.edu 37 17 21075498 21075498 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:21075498G>A ENST00000395511.3 + 2 508 c.188G>A c.(187-189)gGg>gAg p.G63E DHRS7B_ENST00000579303.1_Missense_Mutation_p.G48E NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 63 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 GCCACCTCAGGGCTGGGCAAA 0.687000 3 13 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968445 69968445 + Missense_Mutation SNP C C T rs112443855 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:69968445C>T ENST00000299293.2 + 10 1747 c.1237C>T c.(1237-1239)Cgg>Tgg p.R413W FRS2_ENST00000397997.2_Missense_Mutation_p.R413W|FRS2_ENST00000549921.1_Missense_Mutation_p.R413W|FRS2_ENST00000550389.1_Missense_Mutation_p.R413W NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 413 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTCAAGGCGTCGGGACTGTAC 0.398000 291 870 0 0 1 0 0 MIR518B 574474 broad.mit.edu 37 19 54206032 54206032 + RNA SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:54206032G>A ENST00000385127.1 + 0 42 NR_030196.1 TCTGTTGTCTGAAAGAAAACA 0.448000 14 25 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150920153 150920153 + Missense_Mutation SNP T T A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr5:150920153T>A ENST00000261800.5 - 10 9026 c.9014A>T c.(9013-9015)aAt>aTt p.N3005I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3005 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGTTATCATTGACGTCCAG 0.542000 7 17 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30890112 30890112 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr7:30890112C>T ENST00000265299.6 + 10 1565 c.1488C>T c.(1486-1488)gtC>gtT p.V496V INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 496 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTGCCTCGTCCTGGCCCTCG 0.602000 6 21 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125131953 125131953 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:125131953C>T ENST00000522917.1 + 41 5702 c.5496C>T c.(5494-5496)atC>atT p.I1832I FER1L6_ENST00000399018.1_Silent_p.I1832I|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1832 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) tcattctcatcatcctcatca 0.468000 5 111 0 0 1 0 0 UBE2R2 54926 broad.mit.edu 37 9 33911983 33911983 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr9:33911983C>G ENST00000263228.3 + 4 575 c.384C>G c.(382-384)atC>atG p.I128M NM_017811.3 NP_060281.2 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme E2R 2 128 protein K48-linked ubiquitination|protein monoubiquitination ATP binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) TAAGTGTAATCTCACTGCTTA 0.363000 38 14 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36964259 36964259 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:36964259C>T ENST00000454319.1 - 3 245 c.111G>A c.(109-111)gaG>gaA p.E37E ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Silent_p.E37E|ZNF566_ENST00000392170.2_Silent_p.E37E|ZNF566_ENST00000434377.2_Silent_p.E37E NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TGCTGTAATTCTCCAACATCA 0.438000 7 93 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78516170 78516170 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:78516170C>T ENST00000397909.2 + 16 4373 c.4200C>T c.(4198-4200)ctC>ctT p.L1400L NAV3_ENST00000536525.2_Silent_p.L1400L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.L1400L Q8IVL0 NAV3_HUMAN neuron navigator 3 1400 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGAGCCTGCTCATGAGAACGG 0.552000 HNSCC(70;0.22) 4 78 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100084694 100084694 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr7:100084694G>A ENST00000423930.1 + 3 478 c.319G>A c.(319-321)Gag>Aag p.E107K NYAP1_ENST00000454988.1_Missense_Mutation_p.E50K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E107K Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 107 GGGCCTCACAGAGGACAGCAG 0.721000 5 41 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648476 20648476 + Splice_Site SNP T T A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr16:20648476T>A ENST00000219151.4 - 9 1346 c.136_splice c.e9+1 p.S46_splice ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 399 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TCCTACCTACTGTGTGTGATG 0.453000 34 45 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145657761 145657761 + Silent SNP G G A rs34599999 byFrequency TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:145657761G>A ENST00000409379.3 - 23 3671 c.3642C>T c.(3640-3642)ccC>ccT p.P1214P NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1214 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity p.P1214P(1)|p.P1055P(1) biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GGGTGCCGGCGGGCAGGCTCT 0.647000 4 76 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61252826 61252826 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:61252826C>T ENST00000338608.2 + 6 652 c.527C>T c.(526-528)aCg>aTg p.T176M PPP1R32_ENST00000432063.2_Missense_Mutation_p.T176M|RP11-286N22.8_ENST00000544880.1_3'UTR NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 176 CGCTTCATGACGTCGGAGTAC 0.622000 9 38 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412477 77412477 + Silent SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:77412477G>A ENST00000308488.6 - 6 2099 c.1797C>T c.(1795-1797)gaC>gaT p.D599D RSF1_ENST00000480887.1_Silent_p.D347D|RSF1_ENST00000360355.2_Silent_p.D568D Q96T23 RSF1_HUMAN remodeling and spacing factor 1 599 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ATCTTTGTGCGTCCTTATCAA 0.428000 25 87 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5791016 5791016 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr10:5791016G>C ENST00000328090.5 + 15 6257 c.5632G>C c.(5632-5634)Gag>Cag p.E1878Q NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1878 CAACAACCAAGAGGACTGGGG 0.512000 16 42 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141590935 141590935 + Silent SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr4:141590935G>A ENST00000442267.2 - 8 1364 c.1290C>T c.(1288-1290)ctC>ctT p.L430L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 430 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TGGAGGAGACGAGGCTGCTGG 0.537000 4 30 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74290542 74290542 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr15:74290542C>T ENST00000565898.1 + 2 411 c.327C>T c.(325-327)ttC>ttT p.F109F PML_ENST00000563500.1_Silent_p.F109F|PML_ENST00000436891.3_Silent_p.F109F|PML_ENST00000435786.2_Silent_p.F109F|PML_ENST00000395132.2_Silent_p.F109F|PML_ENST00000395135.3_Silent_p.F109F|PML_ENST00000359928.4_Silent_p.F109F|PML_ENST00000354026.6_Silent_p.F109F|PML_ENST00000268058.3_Silent_p.F109F|PML_ENST00000268059.6_Silent_p.F109F|PML_ENST00000569965.1_Silent_p.F109F|PML_ENST00000569477.1_Silent_p.F109F|PML_ENST00000567543.1_Silent_p.F109F|PML_ENST00000564428.1_Silent_p.F109F P29590 PML_HUMAN promyelocytic leukemia 109 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 ACGTCTTTTTCGAGAGTCTGC 0.632000 T """RARA, PAX5""" """APL, ALL""" 15 32 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91871385 91871385 + Missense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr7:91871385C>A ENST00000394507.1 - 5 848 c.65G>T c.(64-66)aGt>aTt p.S22I KRIT1_ENST00000394503.2_Missense_Mutation_p.S22I|KRIT1_ENST00000340022.2_Missense_Mutation_p.S22I|KRIT1_ENST00000394505.2_Missense_Mutation_p.S22I|KRIT1_ENST00000412043.2_Missense_Mutation_p.S22I NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 22 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAATTGAGACTGGCAGTATT 0.303000 61 274 4.46356e-37 4.96321e-37 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57769098 57769098 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr20:57769098C>T ENST00000371030.2 + 1 3024 c.3024C>T c.(3022-3024)ccC>ccT p.P1008P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1008 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGGAGGACCCCAGCTGTTCCA 0.647000 4 28 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957357 12957357 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:12957357G>A ENST00000276297.4 - 9 2898 c.2489C>T c.(2488-2490)tCg>tTg p.S830L DLC1_ENST00000520226.1_Missense_Mutation_p.S319L|DLC1_ENST00000358919.2_Missense_Mutation_p.S393L|DLC1_ENST00000512044.2_Missense_Mutation_p.S427L NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 830 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GTTATTCCCCGAGGGGGAGAA 0.577000 4 57 0 0 1 0 0 RCAN3 11123 broad.mit.edu 37 1 24859680 24859680 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:24859680G>C ENST00000374395.4 + 4 790 c.477G>C c.(475-477)caG>caC p.Q159H RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.Q101H|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q149H NM_001251978.1|NM_001251979.1|NM_001251984.1 NP_001238907.1|NP_001238908.1|NP_001238913.1 Q9UKA8 RCAN3_HUMAN RCAN family member 3 159 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2) 7 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) GGTGGAAGCAGAGCGAAGATG 0.507000 16 25 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44171825 44171825 + Missense_Mutation SNP A A T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chrX:44171825A>T ENST00000420999.1 - 2 303 c.220T>A c.(220-222)Ttt>Att p.F74I NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 74 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TGTTTATCAAAGGCTACCCAT 0.403000 6 7 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47563359 47563359 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr18:47563359C>T ENST00000285039.7 - 4 615 c.316G>A c.(316-318)Gta>Ata p.V106I NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 106 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCAACAAGTACGATACCTGCA 0.453000 15 29 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67857567 67857567 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr16:67857567C>G ENST00000388833.3 + 5 641 c.264C>G c.(262-264)ttC>ttG p.F88L TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F142L|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 88 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) TAGAGGACTTCAAAACGTACA 0.498000 13 26 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47852933 47852933 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr20:47852933C>T ENST00000371764.4 + 14 1675 c.1666C>T c.(1666-1668)Cgt>Tgt p.R556C DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 556 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCGAACAGCACGTGCTGGCAG 0.537000 18 85 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56428753 56428753 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:56428753C>T ENST00000262032.5 + 12 1763 c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W IKZF4_ENST00000431367.2_Missense_Mutation_p.R364W|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R466W|IKZF4_ENST00000547791.1_Missense_Mutation_p.R421W Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 466 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACGAAGATCGGGTTGCGGG 0.667000 14 19 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134072440 134072440 + Nonsense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:134072440C>T ENST00000395352.3 - 2 365 c.17G>A c.(16-18)tGg>tAg p.W6* SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Nonsense_Mutation_p.W6*|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000427060.2_Nonsense_Mutation_p.W29* NM_001045557.2 NP_001039022.2 Q13239 SLAP1_HUMAN Src-like-adaptor 0 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TGGTGATGCCCAGAGCCTGTG 0.567000 14 66 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42473056 42473056 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:42473056C>G ENST00000545399.1 - 20 2892 c.2739G>C c.(2737-2739)caG>caC p.Q913H ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q911H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q870H|ATP1A3_ENST00000302102.5_Missense_Mutation_p.Q900H NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 900 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CCACCTTCCTCTGCTCGTATG 0.622000 6 64 0 0 1 0 0 CETN1 1068 broad.mit.edu 37 18 580529 580529 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr18:580529G>A ENST00000327228.3 + 1 163 c.121G>A c.(121-123)Gac>Aac p.D41N NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 41 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 TGACCTCTTCGACGTGGACGG 0.567000 6 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611294 179611294 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:179611294C>G ENST00000360870.5 - 46 16055 c.15833G>C c.(15832-15834)aGa>aCa p.R5278T TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8797 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCACCACTCTTTCTTCCTG 0.438000 21 52 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25283862 25283862 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr13:25283862G>A ENST00000218548.6 + 19 3010 c.2677G>A c.(2677-2679)Gtc>Atc p.V893I ATP12A_ENST00000381946.3_Missense_Mutation_p.V887I NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 887 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GTATTTCACCGTCTATGCACA 0.502000 57 139 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723727 142723727 + Missense_Mutation SNP G G A rs143573729 byFrequency TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr7:142723727G>A ENST00000350513.2 - 1 555 c.493C>T c.(493-495)Cgc>Tgc p.R165C NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R165S(1) central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) TTTGATTTGCGGAAGGTAAAC 0.398000 4 91 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35485180 35485180 + Nonsense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:35485180G>A ENST00000357182.4 - 4 429 c.202C>T c.(202-204)Cag>Tag p.Q68* ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68* NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 68 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AAAGAAAGCTGAAAGCCTGGG 0.368000 16 19 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6001995 6001995 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:6001995C>T ENST00000303657.5 - 15 1839 c.1690G>A c.(1690-1692)Gtg>Atg p.V564M RFX2_ENST00000592546.1_Missense_Mutation_p.V539M|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.V564M NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 AGCCGCTGCACCACACTCTCC 0.657000 17 36 0 0 1 0 0 MPND 84954 broad.mit.edu 37 19 4357271 4357271 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr19:4357271C>T ENST00000599840.1 + 9 1053 c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W MPND_ENST00000359935.4_Missense_Mutation_p.R290W|MPND_ENST00000262966.8_Missense_Mutation_p.R340W|AC007292.3_ENST00000593524.1_RNA Q8N594 MPND_HUMAN MPN domain containing 340 MPN. peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTTCCTGCGGGGCCTGTC 0.652000 6 23 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140922441 140922441 + Nonsense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:140922441C>A ENST00000389328.4 - 20 3222 c.3208G>T c.(3208-3210)Gaa>Taa p.E1070* TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.E963*|TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.E972* NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 972 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CCTCGGGCTTCCCGCCGCTCT 0.592000 16 49 0.00316338 0.00322838 1 1 0 PLEKHH3 79990 broad.mit.edu 37 17 40823067 40823067 + Nonsense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:40823067C>A ENST00000293349.6 - 9 1796 c.1366G>T c.(1366-1368)Gag>Tag p.E456* PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.E456*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.E456* Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 456 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) AGGGCTCGCTCCTGGGCCCCT 0.657000 8 84 0.0381472 0.038405 1 1 0 OR5J2 282775 broad.mit.edu 37 11 55944325 55944325 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:55944325G>A ENST00000312298.1 + 1 232 c.232G>A c.(232-234)Gca>Aca p.A78T NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) ATCTGCAATTGCACCCAAAAT 0.438000 15 176 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419974 105419974 + Missense_Mutation SNP G G T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr14:105419974G>T ENST00000333244.5 - 7 1933 c.1814C>A c.(1813-1815)gCc>gAc p.A605D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 605 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCTTCTGTGGCTTTTTCTCT 0.493000 32 357 4.2108e-06 4.54644e-06 1 1 0 SOWAHB 345079 broad.mit.edu 37 4 77817339 77817339 + Missense_Mutation SNP T T A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr4:77817339T>A ENST00000334306.2 - 1 1663 c.1664A>T c.(1663-1665)aAg>aTg p.K555M NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 555 CACAACAGCCTTAACCTCTGC 0.602000 11 29 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178084017 178084017 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr2:178084017G>A ENST00000411529.2 + 10 1112 c.1061G>A c.(1060-1062)aGa>aAa p.R354K HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R376K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R376K NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 376 Gly-rich. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 TATGGTAGCAGAAGGTTCTAA 0.299000 9 37 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321851 106321851 + RNA SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr14:106321851C>T ENST00000390559.2 - 0 382 CTTGGACTTGCGGGGGTTGCC 0.657000 16 30 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46596043 46596043 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr21:46596043G>A ENST00000539173.1 + 4 862 c.427G>A c.(427-429)Gtt>Att p.V143I ADARB1_ENST00000348831.4_Missense_Mutation_p.V143I|ADARB1_ENST00000360697.3_Missense_Mutation_p.V143I|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.V143I NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 143 DRBM 1. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) GAGGTCTTTCGTTCAGTTTCC 0.542000 18 16 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111915886 111915886 + Missense_Mutation SNP A A C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:111915886A>C ENST00000280346.6 + 9 1881 c.1222A>C c.(1222-1224)Aca>Cca p.T408P DLAT_ENST00000393051.1_Missense_Mutation_p.T303P|DLAT_ENST00000537636.1_Missense_Mutation_p.T179P NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 408 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) TGTGCCTCCCACAGGTCCTGG 0.483000 54 77 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36428695 36428695 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr13:36428695G>A ENST00000255448.4 - 6 1187 c.976C>T c.(976-978)Cgc>Tgc p.R326C DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000360631.3_Missense_Mutation_p.R326C|DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 326 Pro/Ser-rich. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity p.R326C(4) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TTGCCTGAGCGCGGAGTAGAG 0.473000 14 29 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 645455 645455 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:645455C>T ENST00000266383.5 + 3 358 c.345C>T c.(343-345)ctC>ctT p.L115L NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 115 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TCCCCTGGCTCTCAGAGGTGA 0.453000 33 43 0 0 1 0 0 NAGS 162417 broad.mit.edu 37 17 42084858 42084858 + Missense_Mutation SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:42084858G>A ENST00000293404.3 + 5 1382 c.1264G>A c.(1264-1266)Gag>Aag p.E422K NM_153006.2 NP_694551.1 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 422 N-acetyltransferase. arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) CTACGTCTCCGAGGGGTAAGC 0.697000 OREG0024449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 40 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209968692 209968692 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:209968692C>T ENST00000367021.3 - 5 623 c.451G>A c.(451-453)Gat>Aat p.D151N IRF6_ENST00000542854.1_Missense_Mutation_p.D56N NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 151 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGCGACTGATCCAGCTCATCT 0.512000 HNSCC(57;0.16) 27 85 0 0 1 0 0 CTAG2 30848 broad.mit.edu 37 X 153880469 153880469 + Silent SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chrX:153880469C>T ENST00000369585.3 - 3 529 c.477G>A c.(475-477)ttG>ttA p.L159L CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGATCCACATCAACAGGGAAA 0.592000 9 30 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43320687 43320687 + Splice_Site SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:43320687C>T ENST00000331495.3 + 17 2549 c.2213_splice c.e17+1 p.A738_splice FMNL1_ENST00000328118.3_Splice_Site_p.A738_splice|FMNL1_ENST00000587489.1_Splice_Site_p.A316_splice NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 738 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GCCATTGAGGCGTGAGTGTCC 0.597000 21 35 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158924160 158924160 + Silent SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr6:158924160G>A ENST00000367097.3 + 13 4822 c.3465G>A c.(3463-3465)ctG>ctA p.L1155L TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1155 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTCTGATGCTGAGTCAGGGCC 0.582000 27 59 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24700294 24700294 + Missense_Mutation SNP C C A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr1:24700294C>A ENST00000374409.1 - 6 723 c.469G>T c.(469-471)Gtc>Ttc p.V157F STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.V110F|STPG1_ENST00000003583.8_Missense_Mutation_p.V110F|STPG1_ENST00000337248.4_Missense_Mutation_p.V157F NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 CAGCAAGAGACAGAGGCCTAG 0.458000 64 158 4.45325e-31 4.91507e-31 1 1 0 PLAG1 5324 broad.mit.edu 37 8 57079259 57079259 + Missense_Mutation SNP T T C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr8:57079259T>C ENST00000316981.3 - 5 1525 c.1046A>G c.(1045-1047)gAa>gGa p.E349G PLAG1_ENST00000429357.2_Missense_Mutation_p.E349G|PLAG1_ENST00000423799.2_Missense_Mutation_p.E267G NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 349 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TAATGGCTGTTCTTTTTCAGG 0.423000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 46 81 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230226 39230226 + Silent SNP C C T rs141262169 by1000genomes TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:39230226C>T ENST00000340369.3 - 2 939 c.711G>A c.(709-711)acG>acA p.T237T XIRP1_ENST00000396251.1_Silent_p.T237T|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 237 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ACAGGGGCTCCGTTTGGAAGA 0.617000 31 41 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906086 5906086 + Silent SNP G G A TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:5906086G>A ENST00000316987.2 + 1 586 c.564G>A c.(562-564)ggG>ggA p.G188G NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTGGCCGGGTTGGCCTGTG 0.443000 38 112 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682754 100682754 + Missense_Mutation SNP C C T rs71286275 TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr7:100682754C>T ENST00000306151.4 + 3 8121 c.8057C>T c.(8056-8058)aCt>aTt p.T2686I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2686 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCAACCTCAACTCCTGGTGAA 0.483000 23 704 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 460237 460237 + Missense_Mutation SNP A A G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr11:460237A>G ENST00000308020.5 + 2 409 c.233A>G c.(232-234)tAt>tGt p.Y78C NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 78 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) ACGCTTGGCTATGTGACGCTG 0.552000 5 30 0 0 1 0 0 MSL1 339287 broad.mit.edu 37 17 38285640 38285640 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr17:38285640C>T ENST00000398532.3 + 3 1450 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C MSL1_ENST00000578648.1_Missense_Mutation_p.R379C|MSL1_ENST00000577454.1_Missense_Mutation_p.R379C|MSL1_ENST00000579565.1_Missense_Mutation_p.R116C Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) 379 histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 TGTTTGTAAACGTGAATTGAG 0.473000 13 62 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133901872 133901872 + Missense_Mutation SNP C C T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr5:133901872C>T ENST00000395003.1 + 9 1215 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W PHF15_ENST00000361895.2_Missense_Mutation_p.R346W|PHF15_ENST00000282605.4_Missense_Mutation_p.R346W|PHF15_ENST00000402835.1_Missense_Mutation_p.R346W NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 346 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTGGAAATGCGGACTATATT 0.557000 27 51 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831849 72831849 + Missense_Mutation SNP G G C TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr16:72831849G>C ENST00000268489.5 - 9 5404 c.4732C>G c.(4732-4734)Caa>Gaa p.Q1578E ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q664E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1578 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCTGATTCTTGAAGGGCTCTC 0.453000 9 72 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136708300 136708300 + Frame_Shift_Del DEL G G - TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:136708300delG ENST00000329582.4 + 4 673 c.424delG c.(424-426)ggfs p.G142fs IL20RB_ENST00000309741.5_Frame_Shift_Del_p.G95fs|IL20RB_ENST00000484501.1_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 142 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TACCCGACCTGGGATGGAGAT 0.562 14 66 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 2 4 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 7 13 --- --- --- --- C9orf24 84688 broad.mit.edu 37 9 34381458 34381459 + Translation_Start_Site INS - - T TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr9:34381458_34381459insT ENST00000379133.3 - 0 139_140 C9orf24_ENST00000297623.2_Intron|C9orf24_ENST00000379126.3_De_novo_Start_OutOfFrame|C9orf24_ENST00000379127.1_Intron|C9orf24_ENST00000379124.1_De_novo_Start_OutOfFrame NM_001252195.1|NM_147168.1 NP_001239124.1|NP_671697.1 Q8NCR6 CI024_HUMAN chromosome 9 open reading frame 24 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) AGCGGCACACATGCTACCTCAA 0.599 52 31 --- --- --- --- TAPBPL 55080 broad.mit.edu 37 12 6561460 6561460 + Frame_Shift_Del DEL T T - TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr12:6561460delT ENST00000266556.7 + 1 211 c.46delT c.(46-48)ctfs p.S16fs TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Frame_Shift_Del_p.S16fs NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 16 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 CCTGGCTCTATCTGGAGCAGC 0.632 3 4 --- --- --- --- ANKRD20A18P 391269 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc7fce35-d44c-4bf6-b703-f29485dd05df 3da4091f-674f-458d-a115-340b82e74f00 g.chr21:15436915delG ENST00000428809.1 + 0 177 CCCCTGGGACGGGGGCCTTGG 0.687 2 4 --- --- --- ---