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 SIRPG 55423 broad.mit.edu 37 20 1629713 1629713 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr20:1629713C>T ENST00000381580.1 - 2 495 c.316G>A c.(316-318)Gag>Aag p.E106K SIRPG_ENST00000344103.4_Missense_Mutation_p.E139K|SIRPG_ENST00000381583.2_Missense_Mutation_p.E139K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E139K|SIRPG_ENST00000303415.3_Missense_Mutation_p.E139K Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 139 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 AAAGCCATCTCAGTGCCTGGT 0.483000 27 157 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1565827 1565827 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:1565827G>A ENST00000357210.4 + 20 3175 c.2959G>A c.(2959-2961)Gca>Aca p.A987T MIB2_ENST00000355826.5_Missense_Mutation_p.A1030T|MIB2_ENST00000520777.1_Missense_Mutation_p.A1040T|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000505820.2_Missense_Mutation_p.A1044T|MIB2_ENST00000504599.1_Missense_Mutation_p.A943T|MIB2_ENST00000378708.1_Missense_Mutation_p.A893T|MIB2_ENST00000360522.4_Missense_Mutation_p.A952T|MIB2_ENST00000378710.3_Missense_Mutation_p.A951T|MIB2_ENST00000518681.1_Missense_Mutation_p.A979T NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 987 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGGCCACGGCGCATGCGCCCC 0.706000 3 15 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231264947 231264947 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:231264947G>C ENST00000243810.6 + 15 1303 c.1303G>C c.(1303-1305)Gaa>Caa p.E435Q SP140L_ENST00000444636.1_Missense_Mutation_p.E435Q|SP140L_ENST00000415673.2_Missense_Mutation_p.E435Q|SP140L_ENST00000396563.4_Missense_Mutation_p.E400Q Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 435 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CCCACCTGTGGAAAGTGAGAA 0.522000 6 51 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42022469 42022469 + Missense_Mutation SNP A A G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr4:42022469A>G ENST00000264451.6 + 4 551 c.371A>G c.(370-372)aAg>aGg p.K124R NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 124 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TATGGCTCAAAGTACACTCAG 0.333000 25 136 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:7577022G>A ENST00000420246.2 - 8 1048 c.916C>T c.(916-918)Cga>Tga p.R306* TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 306 Interaction with CARM1.|Interaction with HIPK1 (By similarity). R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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) TGCTTACCTCGCTTAGTGCTC 0.562000 R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE) 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) 38 71 0 0 1 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899675 128899675 + Missense_Mutation SNP G G A rs142699896 by1000genomes TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr12:128899675G>A ENST00000435159.2 + 2 484 c.484G>A c.(484-486)Ggc>Agc p.G162S NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 162 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 GGATGACCACGGCGCCGGGGA 0.597000 4 11 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89357577 89357577 + Nonsense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:89357577C>A ENST00000301030.4 - 5 701 c.241G>T c.(241-243)Gag>Tag p.E81* ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E81* NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 81 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTCTTCCGCTCAGGGCCCTGC 0.607000 8 73 7.48243e-07 7.88149e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179425532 179425532 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:179425532C>T ENST00000589042.1 - 326 85551 c.85327G>A c.(85327-85329)Gtt>Att p.V28443I TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V26802I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19378I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19570I|TTN_ENST00000342992.6_Missense_Mutation_p.V25875I|TTN_ENST00000359218.5_Missense_Mutation_p.V19503I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26802 Fibronectin type-III 107. 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) TTGCAATTAACGGCCACAGAC 0.458000 20 37 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826630 46826630 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:46826630G>A ENST00000283296.7 - 17 3298 c.3010C>T c.(3010-3012)Cct>Tct p.P1004S GPR116_ENST00000545669.1_Missense_Mutation_p.P433S|GPR116_ENST00000456426.2_Missense_Mutation_p.P862S|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1004 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGAGAACTAGGATCTGGGGAG 0.488000 9 101 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150948293 150948293 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr5:150948293C>G ENST00000261800.5 - 1 212 c.200G>C c.(199-201)tGg>tCg p.W67S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 67 Cadherin 1. 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) CCTCACTGCCCACTGTGGCTC 0.478000 9 242 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96370416 96370416 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr12:96370416G>C ENST00000261208.3 - 19 2091 c.1723C>G c.(1723-1725)Ccg>Gcg p.P575A HAL_ENST00000541929.1_Missense_Mutation_p.P367A|HAL_ENST00000538703.1_Missense_Mutation_p.P575A NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 575 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TTCTCCAGCGGAGTGGTTGTT 0.498000 17 68 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3085380 3085380 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr3:3085380G>A ENST00000397461.1 + 22 3187 c.2803G>A c.(2803-2805)Gga>Aga p.G935R CNTN4_ENST00000427331.1_Missense_Mutation_p.G935R|CNTN4_ENST00000418658.1_Missense_Mutation_p.G935R|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.G607R|CNTN4_ENST00000397459.2_Missense_Mutation_p.G607R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G716R NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 935 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GGAAGTAAAAGGATACAAAGT 0.423000 8 53 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101489468 101489468 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:101489468C>G ENST00000370483.5 - 2 164 c.114G>C c.(112-114)ttG>ttC p.L38F CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.L38F NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 38 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) GCCCTGGCCTCAAAGGGCGCC 0.507000 16 55 0 0 1 0 0 TMEM30A 55754 broad.mit.edu 37 6 75968511 75968511 + Silent SNP A A G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:75968511A>G ENST00000230461.6 - 6 1206 c.877T>C c.(877-879)Ttg>Ctg p.L293L TMEM30A_ENST00000370050.5_Silent_p.L174L|TMEM30A_ENST00000475111.2_Silent_p.L257L NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 293 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTGACATTCAAAGAGTATCGG 0.403000 3 77 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3979393 3979393 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr19:3979393G>A ENST00000309311.6 - 11 1735 c.1647C>T c.(1645-1647)gcC>gcT p.A549A NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 549 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCTCGCCGGCGCCCGCGA 0.657000 36 52 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197636551 197636551 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:197636551C>T ENST00000263956.3 - 15 2270 c.2181G>A c.(2179-2181)ctG>ctA p.L727L NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 727 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTGGGTTTTTCAGCATCAAAC 0.428000 15 67 0 0 1 0 0 NUCKS1 64710 broad.mit.edu 37 1 205687512 205687512 + Nonsense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:205687512C>A ENST00000367142.4 - 7 930 c.628G>T c.(628-630)Gag>Tag p.E210* NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 210 nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCCGGTTCCTCATCTTCTTCT 0.522000 31 246 1.45844e-13 1.63427e-13 1 1 0 TCTN3 26123 broad.mit.edu 37 10 97452743 97452743 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:97452743G>A ENST00000265993.8 - 3 676 c.433C>T c.(433-435)Ccg>Tcg p.P145S TCTN3_ENST00000430368.1_Missense_Mutation_p.P145S|TCTN3_ENST00000371209.5_Missense_Mutation_p.P145S|TCTN3_ENST00000371217.4_Missense_Mutation_p.P163S NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 145 apoptosis integral to membrane breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) GAAGGAAACGGGGAATTACTC 0.428000 3 42 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15623319 15623319 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr9:15623319G>C ENST00000380701.3 + 7 1058 c.730G>C c.(730-732)Gaa>Caa p.E244Q CCDC171_ENST00000535968.1_Missense_Mutation_p.E244Q|CCDC171_ENST00000297641.3_Missense_Mutation_p.E244Q NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 244 Glu-rich. ATTAGAAACAGAACATATGGA 0.348000 5 131 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41159280 41159280 + Missense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr5:41159280C>A ENST00000263413.3 - 12 2024 c.1760G>T c.(1759-1761)cGa>cTa p.R587L C6_ENST00000337836.5_Missense_Mutation_p.R587L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 587 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTGCATTCTCGGGTTCTCGA 0.493000 16 144 4.96729e-08 5.30292e-08 1 1 0 OR5P3 120066 broad.mit.edu 37 11 7846689 7846689 + Missense_Mutation SNP G G C rs450205 TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:7846689G>C ENST00000328375.1 - 1 830 c.831C>G c.(829-831)ttC>ttG p.F277L RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCACGGTGTAGAACACAGACA 0.458000 16 90 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242572369 242572369 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:242572369G>A ENST00000407315.1 - 2 1634 c.1203C>T c.(1201-1203)agC>agT p.S401S NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 401 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GATAGGGGACGCTCACTCTCC 0.622000 7 23 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38211742 38211742 + Missense_Mutation SNP A A G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr22:38211742A>G ENST00000323205.6 + 7 1028 c.965A>G c.(964-966)aAc>aGc p.N322S GCAT_ENST00000248924.6_Missense_Mutation_p.N296S NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 296 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTCTTCTCCAACAGTCTGCCA 0.637000 32 189 0 0 1 0 0 ZNF789 285989 broad.mit.edu 37 7 99084299 99084299 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr7:99084299C>G ENST00000331410.5 + 5 736 c.466C>G c.(466-468)Caa>Gaa p.Q156E ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGGCTTCCTTCAAAACCTTAA 0.403000 19 89 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234529144 234529144 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:234529144G>A ENST00000040877.1 - 28 4523 c.4524C>T c.(4522-4524)ctC>ctT p.L1508L TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1508 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CAGAGACACTGAGGTGCTGAA 0.483000 5 41 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19410511 19410511 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chrX:19410511C>G ENST00000338883.4 - 17 2274 c.2275G>C c.(2275-2277)Gag>Cag p.E759Q MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E591Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E194Q NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 759 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TTAAGGCCCTCCAGGATCTGT 0.453000 50 137 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24578255 24578255 + Nonsense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr4:24578255G>A ENST00000336812.4 - 2 274 c.118C>T c.(118-120)Cga>Tga p.R40* NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 40 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) TCTCGGTCTCGATCTTTAGAC 0.433000 26 40 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120774829 120774829 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr8:120774829C>T ENST00000378164.2 - 19 2682 c.2384G>A c.(2383-2385)cGt>cAt p.R795H TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 795 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATTTCTGCACGATAATAGTT 0.323000 11 72 0 0 1 0 0 ELAVL1 1994 broad.mit.edu 37 19 8028517 8028517 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr19:8028517G>A ENST00000407627.2 - 6 960 c.831C>T c.(829-831)cgC>cgT p.R277R ELAVL1_ENST00000596459.1_Silent_p.R277R|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000351593.5_Silent_p.R304R NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 277 RRM 3. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGTTGAAGTCGCGGATCACTT 0.547000 81 99 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235993528 235993528 + Nonsense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:235993528G>A ENST00000389794.3 - 3 364 c.190C>T c.(190-192)Cag>Tag p.Q64* LYST_ENST00000536965.1_Nonsense_Mutation_p.Q64*|LYST_ENST00000389793.2_Nonsense_Mutation_p.Q64* Q99698 LYST_HUMAN lysosomal trafficking regulator 64 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AATGTTACCTGATCAATTATA 0.373000 16 46 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584223 82584223 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr7:82584223C>G ENST00000423517.2 - 5 6383 c.6046G>C c.(6046-6048)Gag>Cag p.E2016Q PCLO_ENST00000333891.8_Missense_Mutation_p.E2016Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1947 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTTCTAACTCATAAAACTCT 0.378000 33 110 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716803 101716803 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:101716803G>A ENST00000342239.3 - 4 519 c.428C>T c.(427-429)cCg>cTg p.P143L DNMBP_ENST00000324109.4_Missense_Mutation_p.P143L|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 143 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGAATATTCCGGAATCTGAAA 0.582000 13 55 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4881985 4881985 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:4881985C>T ENST00000321919.9 - 5 608 c.532G>A c.(532-534)Gag>Aag p.E178K GLYR1_ENST00000381983.3_Missense_Mutation_p.E178K|GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Missense_Mutation_p.E178K NM_032569.3 NP_115958.2 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 178 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 CAAACCTTCTCATCCTTTGGG 0.488000 14 57 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94911876 94911876 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:94911876G>C ENST00000536441.1 - 7 1390 c.1054C>G c.(1054-1056)Cag>Gag p.Q352E RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q213E|RP11-712B9.2_ENST00000534891.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 352 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TATTATACCTGAGCTCGGAAT 0.338000 14 53 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70516064 70516064 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:70516064G>C ENST00000265872.6 + 14 1779 c.1660G>C c.(1660-1662)Gag>Cag p.E554Q CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.E539Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.E539Q NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 554 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CCATCGCCCTGAGGAGACCCA 0.473000 4 67 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113623085 113623085 + Missense_Mutation SNP A A G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr3:113623085A>G ENST00000358160.4 + 8 1247 c.755A>G c.(754-756)gAa>gGa p.E252G GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E85G|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E47G|GRAMD1C_ENST00000479212.1_3'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 252 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CGGGTTTCAGAAACAGAGTCA 0.363000 22 69 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55883641 55883641 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:55883641G>C ENST00000521992.1 - 12 1550 c.1405C>G c.(1405-1407)Cag>Gag p.Q469E CES5A_ENST00000518005.1_Missense_Mutation_p.Q334E|CES5A_ENST00000520435.1_Missense_Mutation_p.Q410E|CES5A_ENST00000290567.9_Missense_Mutation_p.Q440E|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000541580.1_5'UTR NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 440 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.Q469K(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TCAAAGCACTGAGGCCGGTGC 0.557000 36 67 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4755233 4755233 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:4755233G>C ENST00000304283.4 - 8 1025 c.731C>G c.(730-732)tCt>tGt p.S244C ANKS3_ENST00000585773.1_Missense_Mutation_p.S171C|ANKS3_ENST00000450067.2_Missense_Mutation_p.S38C|ANKS3_ENST00000446014.2_Missense_Mutation_p.S115C NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 244 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CTCGTCAGAAGAGCTCAGATC 0.502000 18 64 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 7 35 0 0 1 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619301 1619301 + Silent SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:1619301G>C ENST00000412090.1 - 1 223 c.180C>G c.(178-180)gtC>gtG p.V60V KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 60 keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGCAGCAGCAGACAGGCACAT 0.687000 6 270 0 0 1 0 0 ULBP2 80328 broad.mit.edu 37 6 150267599 150267599 + Silent SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:150267599C>A ENST00000367351.3 + 3 514 c.441C>A c.(439-441)atC>atA p.I147I NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 147 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) ATGGGCAGATCTTCCTCCTCT 0.507000 8 239 5.18039e-06 5.38488e-06 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33328669 33328669 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr20:33328669C>T ENST00000374796.2 - 12 7961 c.5391G>A c.(5389-5391)ttG>ttA p.L1797L NCOA6_ENST00000359003.2_Silent_p.L1797L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1797 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GACTATTGGTCAAAAGGGGAG 0.488000 18 105 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352138 15352138 + RNA SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr21:15352138G>A ENST00000344693.5 - 0 620 NR_027270.1 TCCGAGTACCGGATTCGGTAC 0.627000 7 21 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11856353 11856353 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:11856353G>T ENST00000376592.1 - 4 818 c.690C>A c.(688-690)ttC>ttA p.F230L MTHFR_ENST00000376583.3_Missense_Mutation_p.F271L|MTHFR_ENST00000376590.3_Missense_Mutation_p.F230L|MTHFR_ENST00000376585.1_Missense_Mutation_p.F271L P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 230 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CAGCCTCAAAGAAAAGCTGCG 0.572000 114 261 2.55378e-55 2.90286e-55 1 1 0 EPS15 2060 broad.mit.edu 37 1 51910602 51910602 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:51910602G>C ENST00000371733.3 - 11 1009 c.913C>G c.(913-915)Cct>Gct p.P305A EPS15_ENST00000371730.2_Missense_Mutation_p.P305A NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 305 EH 3. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 ATCATTTCAGGAGTAAGAACG 0.393000 T MLL ALL 72 132 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6373655 6373655 + Silent SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:6373655G>T ENST00000262483.8 - 13 1785 c.1698C>A c.(1696-1698)ccC>ccA p.P566P ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.P530P NM_031220.3 NP_112497.2 GGGCCACGGTGGGGAAGGCCG 0.622000 24 24 1.66031e-10 1.80916e-10 1 1 0 OR52N4 390072 broad.mit.edu 37 11 5776386 5776386 + Missense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:5776386C>A ENST00000317254.3 + 1 464 c.416C>A c.(415-417)aCc>aAc p.T139N TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) ACTATCCTCACCAATCCTGTA 0.507000 15 139 1.3612e-06 1.42431e-06 1 1 0 ANKFN1 162282 broad.mit.edu 37 17 54535256 54535256 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:54535256G>A ENST00000566473.2 + 13 1482 c.1482G>A c.(1480-1482)ctG>ctA p.L494L ANKFN1_ENST00000318698.2_Silent_p.L494L Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 494 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TAAGGTGGCTGAGGCAAAGCA 0.478000 29 88 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133312019 133312019 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr12:133312019G>A ENST00000539605.1 - 8 8171 c.1487C>T c.(1486-1488)cCg>cTg p.P496L ANKLE2_ENST00000357997.5_Missense_Mutation_p.P558L|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000337516.5_Missense_Mutation_p.P558L Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 558 cytoplasm|integral to membrane|nuclear envelope p.P558Q(1) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GCCTCTTTCCGGGTCCGACTT 0.478000 31 117 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7797866 7797866 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:7797866C>T ENST00000380358.4 + 8 1387 c.1386C>T c.(1384-1386)ctC>ctT p.L462L CHD3_ENST00000358181.4_Silent_p.L403L|CHD3_ENST00000330494.7_Silent_p.L403L NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 403 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCTACCACCTCGTCTGCCTTG 0.567000 5 148 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815706 158815706 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:158815706C>T ENST00000368141.4 + 5 1161 c.900C>T c.(898-900)atC>atT p.I300I NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 300 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) ACAGAATTATCGAAATAGCAA 0.343000 49 62 0 0 1 0 0 NPTN 27020 broad.mit.edu 37 15 73925519 73925519 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr15:73925519G>A ENST00000351217.6 - 1 956 c.38C>T c.(37-39)tCg>tTg p.S13L NPTN_ENST00000345330.4_Missense_Mutation_p.S13L|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000562924.1_Missense_Mutation_p.S13L|NPTN_ENST00000287226.8_Missense_Mutation_p.S13L|NPTN_ENST00000563691.1_Missense_Mutation_p.S13L|NPTN_ENST00000545878.1_Missense_Mutation_p.S13L|NPTN_ENST00000542234.1_Missense_Mutation_p.S13L NM_001161364.1|NM_017455.3 NP_001154836.1|NP_059429.1 Q9Y639 NPTN_HUMAN neuroplastin 13 elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 CAGCAACAGCGAGAGGGCCAG 0.746000 4 15 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50935382 50935382 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr14:50935382G>T ENST00000013125.4 - 10 979 c.661C>A c.(661-663)Ctc>Atc p.L221I NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 221 Protein kinase. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) ATTGGGTGGAGATCAAACATA 0.393000 9 44 0.000673444 0.000682078 1 1 0 CEP63 80254 broad.mit.edu 37 3 134264494 134264494 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr3:134264494C>T ENST00000337090.3 + 7 795 c.622C>T c.(622-624)Cac>Tac p.H208Y CEP63_ENST00000332047.5_Missense_Mutation_p.H208Y|CEP63_ENST00000606977.1_Missense_Mutation_p.H208Y|CEP63_ENST00000513612.2_Missense_Mutation_p.H208Y|CEP63_ENST00000383229.3_Missense_Mutation_p.H208Y|CEP63_ENST00000354446.3_Missense_Mutation_p.H208Y Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 208 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGAAATTCAACACTTAAGCAG 0.428000 23 113 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200956005 200956005 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:200956005C>G ENST00000332129.2 - 26 3972 c.3656G>C c.(3655-3657)aGa>aCa p.R1219T KIF21B_ENST00000422435.2_Missense_Mutation_p.R1219T|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1219T|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1219T NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1219 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGACTTCCTTCTCGTCAGCGG 0.547000 24 71 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29220963 29220963 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:29220963G>T ENST00000321990.4 + 21 5470 c.5092G>T c.(5092-5094)Gat>Tat p.D1698Y NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1698 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) TGAGAGTAATGATGGATGGAC 0.378000 32 91 5.60225e-13 6.23349e-13 1 1 0 CDH9 1007 broad.mit.edu 37 5 26903856 26903856 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr5:26903856C>G ENST00000231021.4 - 6 1061 c.889G>C c.(889-891)Gtg>Ctg p.V297L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 297 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTTCCCCCACGTCAGGGTCA 0.413000 39 229 0 0 1 0 0 FAAH 2166 broad.mit.edu 37 1 46870755 46870755 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:46870755C>G ENST00000243167.8 + 3 463 c.379C>G c.(379-381)Cag>Gag p.Q127E FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 127 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) TCAGCTGTCTCAGGCCCCAAG 0.562000 20 76 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3085632 3085632 + Silent SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:3085632G>T ENST00000259808.4 + 6 1126 c.828G>T c.(826-828)ccG>ccT p.P276P RIPK1_ENST00000380409.2_Silent_p.P276P|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Silent_p.P230P Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 276 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) AAGCTCGGCCGACATTTCCTG 0.468000 27 52 3.73988e-18 4.22073e-18 1 1 0 FOXD4L1 200350 broad.mit.edu 37 2 114256927 114256927 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:114256927G>C ENST00000306507.5 + 1 267 c.94G>C c.(94-96)Gag>Cag p.E32Q NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 32 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 TGTCCTGGGAgaggaggaaga 0.647000 32 101 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129233286 129233286 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr3:129233286G>A ENST00000296266.3 + 26 3387 c.3195G>A c.(3193-3195)ctG>ctA p.L1065L IFT122_ENST00000507564.1_Silent_p.L1007L|IFT122_ENST00000504021.1_Silent_p.L891L|IFT122_ENST00000440957.2_Silent_p.L805L|IFT122_ENST00000431818.2_Silent_p.L864L|IFT122_ENST00000349441.2_Silent_p.L904L|IFT122_ENST00000348417.2_Silent_p.L1014L|IFT122_ENST00000347300.2_Silent_p.L955L NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 1014 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CCTACAGGCTGGCCCGGCACG 0.602000 14 60 0 0 1 0 0 UBE2I 7329 broad.mit.edu 37 16 1364314 1364314 + Silent SNP A A C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:1364314A>C ENST00000355803.4 + 3 638 c.87A>C c.(85-87)acA>acC p.T29T UBE2I_ENST00000566587.1_Silent_p.T29T|UBE2I_ENST00000397514.3_Silent_p.T29T|UBE2I_ENST00000325437.5_Silent_p.T29T|UBE2I_ENST00000403747.2_Silent_p.T29T|UBE2I_ENST00000397515.2_Silent_p.T29T|UBE2I_ENST00000406620.1_Silent_p.T29T|UBE2I_ENST00000402301.1_Silent_p.T29T NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 29 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) CTGTCCCAACAAAAAATCCCG 0.547000 23 42 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526508 173526508 + Missense_Mutation SNP C C T rs141463661 byFrequency TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:173526508C>T ENST00000367714.3 - 10 1608 c.1186G>A c.(1186-1188)Gct>Act p.A396T SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A294T NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 396 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTTCGTTCAGCGAGATTATAA 0.353000 26 185 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226574040 226574040 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:226574040G>A ENST00000366794.5 - 6 964 c.821C>T c.(820-822)tCt>tTt p.S274F NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 274 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CGACTCCCCAGAAGGCACTTG 0.537000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 16 54 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81972454 81972454 + Missense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:81972454C>A ENST00000359376.3 + 29 3461 c.3247C>A c.(3247-3249)Ccc>Acc p.P1083T NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1083 C2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TATTGCCTGTCCCTTTGTAGA 0.527000 10 58 9.70103e-10 1.0427e-09 1 1 0 PALLD 23022 broad.mit.edu 37 4 169846389 169846389 + Nonsense_Mutation SNP C C T rs145720372 TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr4:169846389C>T ENST00000261509.6 + 20 3524 c.3313C>T c.(3313-3315)Cga>Tga p.R1105* PALLD_ENST00000512127.1_Intron|PALLD_ENST00000335742.7_Intron|PALLD_ENST00000505667.1_Nonsense_Mutation_p.R1122*|PALLD_ENST00000507735.1_Intron|CBR4_ENST00000509108.1_Intron NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1329 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TGTAGTTTCTCGACATTAATA 0.313000 Pancreatic Cancer, Familial Clustering of 48 200 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55839108 55839108 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:55839108C>T ENST00000373965.2 - 18 2489 c.2095G>A c.(2095-2097)Gat>Aat p.D699N PCDH15_ENST00000395430.1_Missense_Mutation_p.D692N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D621N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D670N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D303N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D692N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D699N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D655N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D692N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.D670N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D697N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D692N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D692N NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 692 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GGCCTGCCATCTGAAGCTGTG 0.433000 HNSCC(58;0.16) 6 196 0 0 1 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149857997 149857997 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:149857997G>C ENST00000369155.2 - 1 235 c.194C>G c.(193-195)tCc>tGc p.S65C NM_003528.2 NP_003519.1 Q16778 H2B2E_HUMAN histone cluster 2, H2be 65 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GTTGACGAAGGAGTTCATGAT 0.607000 48 187 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35672472 35672472 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr13:35672472G>A ENST00000400445.3 + 11 2144 c.1610G>A c.(1609-1611)aGt>aAt p.S537N NBEA_ENST00000310336.4_Missense_Mutation_p.S537N|NBEA_ENST00000379939.2_Missense_Mutation_p.S537N|NBEA_ENST00000540320.1_Missense_Mutation_p.S537N NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 537 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTACTTAAAAGTTCAGTAGCC 0.368000 10 4 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5185550 5185550 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr9:5185550C>T ENST00000381641.3 - 1 118 c.53G>A c.(52-54)cGg>cAg p.R18Q NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 18 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) ACGAGAAAACCGAACCAGCAG 0.597000 4 26 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255539 52255539 + Nonsense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr3:52255539G>A ENST00000494383.1 - 5 3252 c.3253C>T c.(3253-3255)Caa>Taa p.Q1085* TLR9_ENST00000360658.2_Silent_p.R931R|TLR9_ENST00000597542.1_Silent_p.R955R Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) ACAGCGTCTTGCGGCTGCCAT 0.672000 53 51 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16142160 16142160 + Splice_Site SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:16142160G>A ENST00000399408.2 + 10 1555 c.1380_splice c.e10+1 p.L460_splice ABCC1_ENST00000399410.3_Splice_Site_p.L460_splice|ABCC1_ENST00000345148.5_Splice_Site_p.L460_splice|ABCC1_ENST00000346370.5_Splice_Site_p.L460_splice|ABCC1_ENST00000349029.5_Splice_Site_p.L460_splice|ABCC1_ENST00000351154.5_Splice_Site_p.L460_splice P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 460 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCCTGTGGCTGGTGTGTGTTT 0.552000 25 98 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800982 185800982 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:185800982G>A ENST00000302277.6 + 4 1453 c.859G>A c.(859-861)Gac>Aac p.D287N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 287 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AATGTGCAGAGACAAAGAAAC 0.373000 22 77 0 0 1 0 0 FAM69C 125704 broad.mit.edu 37 18 72103933 72103933 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr18:72103933G>A ENST00000343998.6 - 4 1071 c.1063C>T c.(1063-1065)Cgc>Tgc p.R355C FAM69C_ENST00000400291.2_Missense_Mutation_p.R56C NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C 355 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(2)|ovary(2) 5 AACCAATGGCGAAATATTTTG 0.522000 6 28 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10471966 10471966 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr18:10471966G>A ENST00000355285.4 + 3 1036 c.682G>A c.(682-684)Gag>Aag p.E228K APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 228 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) CCACCTGGTCGAGGAGCTCTT 0.567000 41 184 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226836413 226836413 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:226836413G>C ENST00000429204.1 - 3 2319 c.1992C>G c.(1990-1992)ttC>ttG p.F664L ITPKB_ENST00000272117.3_Missense_Mutation_p.F664L NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 664 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) ACTTCTTCTTGAAGGACATGA 0.493000 32 110 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150776710 150776710 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr7:150776710G>A ENST00000540185.1 - 2 884 c.280C>T c.(280-282)Cgg>Tgg p.R94W FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R128W|FASTK_ENST00000297532.6_Missense_Mutation_p.R128W Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 128 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGCCGTGGCCGAGACCCCAAG 0.647000 7 27 0 0 1 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7993298 7993298 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:7993298G>T ENST00000377507.3 - 7 769 c.603C>A c.(601-603)ttC>ttA p.F201L NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 201 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) AGAACAGCAGGAAGAGCAACG 0.438000 4 61 0.00909568 0.00915361 1 1 0 EEF1A1 1915 broad.mit.edu 37 6 74227810 74227810 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:74227810C>G ENST00000316292.9 - 6 2198 c.1207G>C c.(1207-1209)Gat>Cat p.D403H EEF1A1_ENST00000309268.6_Missense_Mutation_p.D403H|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D403H NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 403 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GGAACCATATCAACAATGGCA 0.423000 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 14 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971138 21971138 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr9:21971138C>T ENST00000579755.1 - 2 555 c.263G>A c.(262-264)cGa>cAa p.R88Q CDKN2A_ENST00000530628.2_Missense_Mutation_p.R88Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D23N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D74N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D74N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R129Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D23N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D23N|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 144 E -> D (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D74Y(5)|p.D74N(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTGGCGGGGTCGGCGCAGTTG 0.711000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 13 3 0 0 1 0 0 GINS2 51659 broad.mit.edu 37 16 85721081 85721081 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:85721081C>G ENST00000253462.3 - 2 290 c.190G>C c.(190-192)Gag>Cag p.E64Q NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) 64 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 TCCATCCACTCTGGAGGGAGC 0.607000 16 108 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56020972 56020972 + Silent SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr7:56020972G>C ENST00000285298.4 + 2 213 c.84G>C c.(82-84)gtG>gtC p.V28V MRPS17_ENST00000426595.1_Silent_p.V123V NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 28 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGCTAAAGTGAGAGTGACCA 0.468000 25 148 0 0 1 0 0 OXT 5020 broad.mit.edu 37 20 3052340 3052340 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr20:3052340C>T ENST00000217386.2 + 1 75 c.39C>T c.(37-39)ctC>ctT p.L13L NM_000915.2 NP_000906.1 P01178 NEU1_HUMAN oxytocin/neurophysin I prepropeptide 13 signal transduction neurohypophyseal hormone activity lung(2) 2 Oxytocin(DB00107) TGCTCGGCCTCCTGGCGCTGA 0.701000 5 12 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115970681 115970681 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:115970681G>A ENST00000251864.2 + 13 1768 c.1615G>A c.(1615-1617)Gat>Aat p.D539N TDRD1_ENST00000422662.1_Missense_Mutation_p.D200N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539N|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539N|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539N NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 539 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TCCACGCTCTGATTTTTATCC 0.348000 19 56 0 0 1 0 0 ANGPTL3 27329 broad.mit.edu 37 1 63064454 63064454 + Nonsense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:63064454C>T ENST00000371129.3 + 2 663 c.583C>T c.(583-585)Caa>Taa p.Q195* DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 195 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 ACAGCATAGTCAAATAAAAGA 0.318000 12 57 0 0 1 0 0 RAD51B 5890 broad.mit.edu 37 14 68352616 68352616 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr14:68352616C>T ENST00000487270.1 + 6 531 c.483C>T c.(481-483)ccC>ccT p.P161P RAD51B_ENST00000488612.1_Silent_p.P161P|RAD51B_ENST00000390683.3_Silent_p.P161P|RAD51B_ENST00000487861.1_Silent_p.P161P|RAD51B_ENST00000471583.1_Silent_p.P161P NM_133509.3 NP_598193.2 O15315 RA51B_HUMAN RAD51 paralog B 161 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 CCCGTTTTCCCAGATATTTTA 0.363000 Direct reversal of damage 34 233 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068947 157068947 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:157068947C>T ENST00000454449.2 - 2 566 c.282G>A c.(280-282)ctG>ctA p.L94L NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 94 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGGCCCGGCTCAGCTTGTCAT 0.582000 20 75 0 0 1 0 0 MSI1 4440 broad.mit.edu 37 12 120789176 120789176 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr12:120789176G>T ENST00000257552.2 - 11 849 c.761C>A c.(760-762)cCg>cAg p.P254Q NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 254 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGGGCGCTCGGGAGAGGGGT 0.562000 3 31 1 1 1 1 0 WNT5A 7474 broad.mit.edu 37 3 55508406 55508406 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr3:55508406G>A ENST00000474267.1 - 5 1164 c.643C>T c.(643-645)Cgc>Tgc p.R215C WNT5A_ENST00000497027.1_Missense_Mutation_p.R200C|WNT5A_ENST00000264634.4_Missense_Mutation_p.R215C P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 215 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) ATGAGGATGCGAGCACTCTCG 0.657000 17 13 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142714007 142714007 + RNA SNP T T C rs1694635 by1000genomes TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:142714007T>C ENST00000369381.2 - 0 598 GATATCCAACTGGAGAAAAAG 0.303000 5 18 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261178 134261178 + Missense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr7:134261178C>A ENST00000457545.2 + 9 1081 c.821C>A c.(820-822)gCc>gAc p.A274D AKR1B15_ENST00000423958.1_Missense_Mutation_p.A246D NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 274 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 AAAACCACAGCCCAGGTACCA 0.458000 10 52 7.48243e-07 7.88149e-07 1 1 0 RNF213 57674 broad.mit.edu 37 17 78320894 78320894 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:78320894C>T ENST00000582970.1 + 29 8902 c.8759C>T c.(8758-8760)tCa>tTa p.S2920L RNF213_ENST00000508628.2_Missense_Mutation_p.S2969L|RNF213_ENST00000336301.6_Missense_Mutation_p.S993L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATCTGCTCCTCAGACATCCTC 0.567000 8 27 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25121477 25121477 + Missense_Mutation SNP T T C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr22:25121477T>C ENST00000332271.5 - 17 2458 c.2042A>G c.(2041-2043)tAc>tGc p.Y681C PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.Y563C|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Y563C NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 681 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ACATTGAGAGTACCACCTGTT 0.413000 36 61 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57823951 57823951 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr15:57823951G>C ENST00000281282.5 + 14 3343 c.3265G>C c.(3265-3267)Gag>Cag p.E1089Q NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 1089 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TTTGCTGTCTGAGAGGATCAG 0.443000 17 60 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332743 70332743 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:70332743C>T ENST00000338508.4 - 32 3657 c.3658G>A c.(3658-3660)Gca>Aca p.A1220T SHANK2_ENST00000449833.2_Missense_Mutation_p.A624T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A623T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A840T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 840 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCGGAGAGTGCCAGGGCCAGC 0.637000 6 460 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136249652 136249652 + Translation_Start_Site SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr9:136249652G>A ENST00000371955.1 + 0 248 C9orf96_ENST00000371957.3_Missense_Mutation_p.D63N|C9orf96_ENST00000426926.2_Missense_Mutation_p.D63N|C9orf96_ENST00000468046.1_3'UTR Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGAATGCATGGATGACCATTA 0.493000 33 110 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100395746 100395746 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:100395746C>G ENST00000281806.2 - 3 598 c.284G>C c.(283-285)cGa>cCa p.R95P MCHR2_ENST00000445970.1_Missense_Mutation_p.R95P|MCHR2_ENST00000369212.1_Missense_Mutation_p.R95P NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 95 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTCCCCCTCGGGCCCATTG 0.488000 29 104 0 0 1 0 0 ABHD12 26090 broad.mit.edu 37 20 25284224 25284224 + Nonsense_Mutation SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr20:25284224C>A ENST00000339157.5 - 11 1263 c.991G>T c.(991-993)Gag>Tag p.E331* ABHD12_ENST00000376542.3_Nonsense_Mutation_p.E331* NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 331 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GGGTCGTCCTCAGCGTGCAGG 0.617000 14 66 6.72482e-11 7.37863e-11 1 1 0 SLC29A1 2030 broad.mit.edu 37 6 44197355 44197355 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:44197355G>C ENST00000393841.1 + 5 632 c.141G>C c.(139-141)caG>caC p.Q47H SLC29A1_ENST00000371713.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371755.3_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371724.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371740.5_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371731.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000393844.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000371708.1_Missense_Mutation_p.Q47H|SLC29A1_ENST00000313248.7_Missense_Mutation_p.Q126H|SLC29A1_ENST00000427851.2_Missense_Mutation_p.Q47H|SLC29A1_ENST00000472176.1_3'UTR NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 47 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) ACATGTCCCAGAATGTGTCCT 0.562000 12 61 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185701488 185701488 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr4:185701488C>G ENST00000515030.1 - 5 800 c.475G>C c.(475-477)Gag>Cag p.E159Q ACSL1_ENST00000504342.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Missense_Mutation_p.E159Q|ACSL1_ENST00000507295.1_Intron|ACSL1_ENST00000504900.1_Missense_Mutation_p.E159Q|ACSL1_ENST00000513317.1_Missense_Mutation_p.E159Q P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 159 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GTTCATACCTCAGGTCTATTT 0.433000 5 187 0 0 1 0 0 GGA1 26088 broad.mit.edu 37 22 38027078 38027078 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr22:38027078C>G ENST00000406772.1 + 15 1933 c.1281C>G c.(1279-1281)atC>atG p.I427M GGA1_ENST00000337437.4_Missense_Mutation_p.I467M|GGA1_ENST00000343632.4_Missense_Mutation_p.I500M|GGA1_ENST00000381756.5_Missense_Mutation_p.I517M|GGA1_ENST00000325180.8_Missense_Mutation_p.I413M NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 500 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) TGGCCAGCATCACTGTGCCCC 0.667000 20 103 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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) 32 64 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729947 237729947 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:237729947G>A ENST00000366574.2 + 28 3612 c.3295G>A c.(3295-3297)Gga>Aga p.G1099R RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1099 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGTGAAGGCCGGACGGTGGTA 0.552000 4 169 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42213636 42213636 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr20:42213636G>A ENST00000373100.1 + 14 1544 c.1084G>A c.(1084-1086)Gat>Aat p.D362N SGK2_ENST00000373077.1_Missense_Mutation_p.D361N|SGK2_ENST00000373092.3_Missense_Mutation_p.D362N|SGK2_ENST00000423407.3_Missense_Mutation_p.D362N|SGK2_ENST00000426287.1_Missense_Mutation_p.D388N|SGK2_ENST00000341458.4_Missense_Mutation_p.D422N Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 422 AGC-kinase C-terminal. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCCAGAGGATGATGACATCTT 0.507000 5 125 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234454536 234454536 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:234454536G>C ENST00000366618.3 + 6 1139 c.994G>C c.(994-996)Gaa>Caa p.E332Q SLC35F3_ENST00000366617.3_Missense_Mutation_p.E263Q NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 263 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TAAGTTTGGAGAAGCCGCCTT 0.468000 39 170 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89261437 89261437 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:89261437C>T ENST00000289746.2 + 14 2384 c.2319C>T c.(2317-2319)ttC>ttT p.F773F NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 773 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGCCCCGCTTCGCCCGGCTGG 0.672000 6 18 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969076 47969076 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr19:47969076C>T ENST00000236877.6 - 2 980 c.585G>A c.(583-585)ctG>ctA p.L195L SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 195 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) AGAAGACTCTCAGGTGCTTGA 0.552000 15 28 0 0 1 0 0 ABHD2 11057 broad.mit.edu 37 15 89719083 89719083 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr15:89719083G>C ENST00000352732.5 + 6 1099 c.579G>C c.(577-579)aaG>aaC p.K193N ABHD2_ENST00000565973.1_Missense_Mutation_p.K193N|ABHD2_ENST00000355100.3_Missense_Mutation_p.K193N NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 193 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) ACTACATCAAGAAGACATATC 0.507000 19 87 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57662214 57662214 + Silent SNP A A G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr12:57662214A>G ENST00000402412.1 - 18 2292 c.1902T>C c.(1900-1902)aaT>aaC p.N634N RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_Silent_p.N347N|R3HDM2_ENST00000403821.2_Silent_p.N654N|R3HDM2_ENST00000358907.2_Silent_p.N620N|R3HDM2_ENST00000393811.2_Silent_p.N347N|R3HDM2_ENST00000347140.3_Silent_p.N620N|R3HDM2_ENST00000441731.2_Silent_p.N315N|R3HDM2_ENST00000546843.1_5'UTR Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 620 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCTGGACCACATTTTGCGAGT 0.527000 19 55 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067721 190067721 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:190067721G>A ENST00000367462.3 - 8 1959 c.1728C>T c.(1726-1728)ttC>ttT p.F576F FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.F474F NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 576 extracellular region p.F576F(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGCTGCCTCCGAAGGGATTGA 0.463000 5 151 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68598490 68598490 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:68598490G>C ENST00000570495.1 + 5 2092 c.1800G>C c.(1798-1800)caG>caC p.Q600H ZFP90_ENST00000563169.2_Missense_Mutation_p.Q600H|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.Q600H Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 600 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) ATGATCATCAGAGAATTCATA 0.408000 5 292 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52496987 52496987 + Nonsense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr19:52496987G>A ENST00000602063.1 - 6 1691 c.1342C>T c.(1342-1344)Cga>Tga p.R448* ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R459*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R453*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R448*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R459* Q8N8J6 ZN615_HUMAN zinc finger protein 615 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GTATGTGTTCGCTGATGTCTG 0.443000 6 61 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90509416 90509416 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr14:90509416C>T ENST00000335725.4 + 17 2006 c.1756C>T c.(1756-1758)Cgg>Tgg p.R586W TDP1_ENST00000555880.1_Silent_p.I549I|TDP1_ENST00000393454.2_Missense_Mutation_p.R586W|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000357382.3_Missense_Mutation_p.R347W NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 586 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) TCCCCCAGATCGGCCATGGAT 0.418000 Repair of DNA-protein crosslinks 26 60 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8819162 8819162 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr18:8819162G>A ENST00000359865.3 + 13 3203 c.3061G>A c.(3061-3063)Gag>Aag p.E1021K SOGA2_ENST00000517570.1_Missense_Mutation_p.E980K|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1340K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E980K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E346K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E346K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1331 CTCGGCCAGTGAGAATCTCTA 0.617000 12 72 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62340160 62340160 + Nonsense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:62340160G>A ENST00000378019.3 - 2 307 c.217C>T c.(217-219)Cag>Tag p.Q73* MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000532986.1_5'UTR|EEF1G_ENST00000329251.4_Nonsense_Mutation_p.Q23* P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 23 GST N-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCGCTGTACTGAGCAGCGATG 0.547000 17 104 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69934314 69934314 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:69934314G>T ENST00000358913.5 + 11 2953 c.2465G>T c.(2464-2466)cGg>cTg p.R822L MYPN_ENST00000354393.2_Missense_Mutation_p.R547L|MYPN_ENST00000540630.1_Missense_Mutation_p.R822L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 822 Pro-rich. nucleus|sarcomere actin binding p.R822Q(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CCTACCAGCCGGATTCAGAAC 0.557000 11 47 3.86212e-05 3.98833e-05 1 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455656 187455656 + Silent SNP C C T rs149418383 byFrequency TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr4:187455656C>T ENST00000307161.5 - 2 441 c.240G>A c.(238-240)ccG>ccA p.P80P RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 80 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CCAACGGGTACGGATAAATGG 0.502000 10 54 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51772275 51772275 + Missense_Mutation SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr15:51772275G>A ENST00000251076.5 - 25 6913 c.6626C>T c.(6625-6627)tCa>tTa p.S2209L DMXL2_ENST00000543779.2_Missense_Mutation_p.S2209L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1573L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2209 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AATACTTGCTGAAAGCAGAGG 0.363000 38 135 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15647732 15647732 + Missense_Mutation SNP G G A rs150148399 TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr10:15647732G>A ENST00000378076.3 - 19 2314 c.1961C>T c.(1960-1962)tCg>tTg p.S654L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 654 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CGGTCTAGCCGACAGCTTCAA 0.388000 12 60 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41918852 41918852 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr22:41918852C>T ENST00000396512.3 + 10 1249 c.1232C>T c.(1231-1233)aCc>aTc p.T411I ACO2_ENST00000216254.4_Missense_Mutation_p.T386I Q99798 ACON_HUMAN aconitase 2, mitochondrial 386 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 GGTAGCTGCACCAATTCAAGC 0.542000 7 48 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167753961 167753961 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:167753961C>T ENST00000239587.5 + 3 661 c.573C>T c.(571-573)ttC>ttT p.F191F NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 191 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATACCAAGTTCGTGGCTGAAT 0.498000 22 89 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155922435 155922435 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:155922435C>G ENST00000368316.1 - 19 2354 c.1884G>C c.(1882-1884)caG>caC p.Q628H ARHGEF2_ENST00000361247.4_Missense_Mutation_p.Q656H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q655H|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.Q657H|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q628H Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 656 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGATGGCATCCTGCAGCAGCC 0.617000 7 38 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68598406 68598406 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:68598406G>C ENST00000570495.1 + 5 2008 c.1716G>C c.(1714-1716)gaG>gaC p.E572D ZFP90_ENST00000563169.2_Missense_Mutation_p.E572D|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.E572D Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 572 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TTCAGCATGAGAGAACTCATA 0.428000 6 248 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520540 33520540 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:33520540C>T ENST00000297307.5 - 1 872 c.787G>A c.(787-789)Gcc>Acc p.A263T NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 263 integral to membrane p.A263T(1) GAGACCAAGGCGAGGATCCCC 0.627000 5 130 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298484 75298484 + Missense_Mutation SNP G G T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr11:75298484G>T ENST00000304771.3 - 4 2812 c.2062C>A c.(2062-2064)Cca>Aca p.P688T MAP6_ENST00000526740.1_Missense_Mutation_p.P359T|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 688 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GCATGCTCTGGGACTACAACA 0.493000 26 332 2.79863e-10 3.02866e-10 1 1 0 GMDS 2762 broad.mit.edu 37 6 1726714 1726714 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:1726714C>T ENST00000380815.4 - 9 1192 c.923G>A c.(922-924)aGa>aAa p.R308K GMDS_ENST00000530927.1_Missense_Mutation_p.R278K NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 308 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTCTTTACATCTGCCCACTTC 0.488000 12 122 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113975980 113975980 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr13:113975980C>T ENST00000332556.4 + 8 1246 c.1052C>T c.(1051-1053)tCa>tTa p.S351L LAMP1_ENST00000397181.3_Missense_Mutation_p.S298L NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 351 Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) AAGGCGTTTTCAGTCAATATA 0.577000 23 117 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627131 29627131 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:29627131C>T ENST00000376894.4 + 2 242 c.124C>T c.(124-126)Cgg>Tgg p.R42W MOG_ENST00000396701.2_Missense_Mutation_p.R42W|MOG_ENST00000376891.4_Missense_Mutation_p.R42W|MOG_ENST00000431798.2_Missense_Mutation_p.R42W|MOG_ENST00000376902.3_Missense_Mutation_p.R42W|MOG_ENST00000416766.2_Missense_Mutation_p.R42W|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.R42W|MOG_ENST00000483013.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.R42W|MOG_ENST00000376917.3_Missense_Mutation_p.R42W|MOG_ENST00000533330.2_Missense_Mutation_p.R42W|MOG_ENST00000494692.1_Missense_Mutation_p.R42W Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 42 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 ACACCCTATCCGGGCTCTGGT 0.547000 44 252 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113703978 113703978 + Nonsense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr9:113703978C>T ENST00000374431.3 - 4 899 c.516G>A c.(514-516)tgG>tgA p.W172* LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W173*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W172*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W172*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W173* NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 172 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 TGGCCATAGTCCAGATGACCA 0.502000 23 73 0 0 1 0 0 ARL4C 10123 broad.mit.edu 37 2 235404810 235404810 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr2:235404810C>T ENST00000390645.2 - 1 887 c.421G>A c.(421-423)Gag>Aag p.E141K ARL4C_ENST00000339728.3_Missense_Mutation_p.E141K NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 141 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) AGCTGCTTCTCAATCTCTGCC 0.647000 11 45 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321708 78321708 + Silent SNP C C A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:78321708C>A ENST00000582970.1 + 29 9716 c.9573C>A c.(9571-9573)ctC>ctA p.L3191L RNF213_ENST00000508628.2_Silent_p.L3240L|RNF213_ENST00000336301.6_Silent_p.L1264L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGGAGGAGCTCTGTGCGTGGG 0.512000 8 35 0.000157383 0.000161471 1 1 0 NUCKS1 64710 broad.mit.edu 37 1 205687518 205687518 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:205687518C>T ENST00000367142.4 - 7 924 c.622G>A c.(622-624)Gaa>Aaa p.E208K NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 208 nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCCTCATCTTCTTCTTTGGGA 0.507000 33 244 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7329557 7329557 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr17:7329557C>G ENST00000333870.3 + 3 321 c.247C>G c.(247-249)Cag>Gag p.Q83E RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 83 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) AGACAAGGCTCAGGATGTCCA 0.542000 24 90 0 0 1 0 0 B3GAT2 135152 broad.mit.edu 37 6 71603971 71603971 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:71603971C>T ENST00000230053.6 - 2 1204 c.596G>A c.(595-597)cGa>cAa p.R199Q NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 199 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GCGGGTGGTTCGCATCTATAA 0.507000 6 50 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84906615 84906615 + Silent SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:84906615C>T ENST00000262424.5 + 10 1223 c.999C>T c.(997-999)cgC>cgT p.R333R CRISPLD2_ENST00000564567.1_Silent_p.R333R|CRISPLD2_ENST00000567845.1_Silent_p.R332R NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 333 LCCL 1. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 GCATATGCCGCGCCGCCATCC 0.552000 62 132 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41808584 41808584 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr19:41808584C>T ENST00000392006.3 + 12 1875 c.1702C>T c.(1702-1704)Cca>Tca p.P568S HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P568S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P468S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P454S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P479S NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 568 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CTTCACGTTGCCAGATGTTGG 0.552000 14 76 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21799304 21799304 + Silent SNP G G A TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr22:21799304G>A ENST00000443632.2 + 2 492 c.120G>A c.(118-120)agG>agA p.R40R HIC2_ENST00000407464.2_Silent_p.R40R|HIC2_ENST00000407598.2_Silent_p.R40R Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 40 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) ACCAGCAGAGGACCAAGGGCT 0.627000 42 95 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415945 86415945 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr7:86415945C>G ENST00000361669.2 + 3 1936 c.837C>G c.(835-837)gaC>gaG p.D279E GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D277E|GRM3_ENST00000536043.1_Missense_Mutation_p.D151E|GRM3_ENST00000439827.1_Missense_Mutation_p.D279E|AC005009.2_ENST00000418031.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 279 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCGCAGCGACGACTCGCGGG 0.657000 7 70 0 0 1 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21745068 21745068 + Missense_Mutation SNP C C T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr18:21745068C>T ENST00000319481.3 - 27 2917 c.2711G>A c.(2710-2712)cGc>cAc p.R904H OSBPL1A_ENST00000399443.3_Missense_Mutation_p.R391H|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.R522H NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 904 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CCTGTTTTTGCGGGCTGCTCT 0.488000 5 281 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90399691 90399691 + Missense_Mutation SNP G G C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr6:90399691G>C ENST00000369393.3 - 65 11036 c.10921C>G c.(10921-10923)Caa>Gaa p.Q3641E MDN1_ENST00000428876.1_Missense_Mutation_p.Q3641E Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3641 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGAGTCTGTTGATACCAGAGG 0.502000 21 89 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167833 161167833 + Silent SNP G G A rs114749477 by1000genomes TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:161167833G>A ENST00000367996.4 - 1 1013 c.585C>T c.(583-585)aaC>aaT p.N195N ADAMTS4_ENST00000367995.3_Silent_p.N195N NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 195 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GAGCCTTGACGTTGCACATGG 0.642000 12 61 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325653 47325654 + RNA INS - - T TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:47325653_47325654insT ENST00000505841.1 - 0 1070 NR_002788.2 TAACTGTAAGCTTTTTTTTCGC 0.371 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 3 5 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 7 286 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f755746c-c1e7-4b10-8cc4-2468ae3f5872 fcaf5dd9-c2dc-43cf-8f74-cf9f7d7085b6 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- ---