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 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 198 0 0 1 0 0 ZNF738 0 broad.mit.edu 37 19 21558687 21558687 + Silent SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr19:21558687G>A ENST00000311015.3 + 4 451 c.240G>A c.(238-240)aaG>aaA p.K80K ZNF738_ENST00000597810.1_Silent_p.K80K|ZNF738_ENST00000380870.4_Silent_p.K80K kidney(1)|lung(1) 2 ATGTCTCTAAGCCAGATCTGA 0.388000 19 47 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844290 128844290 + Silent SNP T T C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr11:128844290T>C ENST00000310343.9 - 20 2759 c.2760A>G c.(2758-2760)tcA>tcG p.S920S ARHGAP32_ENST00000524655.1_Silent_p.S846S|ARHGAP32_ENST00000392657.3_Silent_p.S571S|ARHGAP32_ENST00000527272.1_Silent_p.S571S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 920 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CAATGACTTCTGACACCCGTG 0.453000 13 76 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 12 0 0 1 0 0 WDR82 80335 broad.mit.edu 37 3 52304795 52304795 + Silent SNP A A G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr3:52304795A>G ENST00000296490.3 - 2 473 c.192T>C c.(190-192)taT>taC p.Y64Y NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 64 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) GGTCCACACCATATTTCTTAC 0.383000 20 197 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1900969 1900969 + Silent SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr8:1900969C>T ENST00000518288.1 + 29 3731 c.3568C>T c.(3568-3570)Ctg>Ttg p.L1190L ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Silent_p.L1128L|ARHGEF10_ENST00000262112.6_Silent_p.L1162L|ARHGEF10_ENST00000398564.1_Silent_p.L1191L|ARHGEF10_ENST00000349830.3_Silent_p.L1166L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1191 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GGTCCCACGTCTGCAAGGGAT 0.622000 39 13 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42989096 42989096 + Missense_Mutation SNP C C A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr17:42989096C>A ENST00000253408.5 - 5 915 c.850G>T c.(850-852)Gac>Tac p.D284Y GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.D284Y|GFAP_ENST00000586793.1_Missense_Mutation_p.D284Y NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 284 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) CGCCGGTAGTCGTTGGCTTCG 0.682000 39 53 2.91434e-09 3.27863e-09 1 1 0 OR52D1 390066 broad.mit.edu 37 11 5510455 5510455 + Silent SNP T T C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr11:5510455T>C ENST00000322641.5 + 1 541 c.519T>C c.(517-519)ggT>ggC p.G173G HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTACTGTGGTCACCGTGTCA 0.512000 9 226 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100866042 100866042 + Silent SNP A A G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr8:100866042A>G ENST00000358544.2 + 56 10611 c.10500A>G c.(10498-10500)aaA>aaG p.K3500K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.K3475K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3500 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACAAGGAAAAATGTTTTATCA 0.393000 5 273 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111618107 111618107 + Missense_Mutation SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr9:111618107G>A ENST00000374667.3 - 1 1132 c.104C>T c.(103-105)gCg>gTg p.A35V NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 35 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CTGAGTGGCCGCACCTGTGTC 0.657000 5 136 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 10 45 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52960700 52960700 + Missense_Mutation SNP G G A rs143324533 TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr4:52960700G>A ENST00000295213.4 + 12 1945 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 524 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) CAGATGTCTCGAAGTCGGAGT 0.343000 5 53 0 0 1 0 0 GKN2 200504 broad.mit.edu 37 2 69173530 69173530 + Silent SNP C C G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr2:69173530C>G ENST00000481498.1 - 5 396 c.378G>C c.(376-378)ctG>ctC p.L126L GKN2_ENST00000328895.4_Silent_p.L126L Q86XP6 GKN2_HUMAN gastrokine 2 126 BRICHOS. extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 CGTCTTTGATCAGAGACTCCA 0.433000 82 102 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55229298 55229298 + Silent SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr7:55229298C>T ENST00000275493.2 + 13 1782 c.1605C>T c.(1603-1605)tgC>tgT p.C535C EGFR_ENST00000455089.1_Silent_p.C490C|EGFR_ENST00000442591.1_Silent_p.C535C|EGFR_ENST00000454757.2_Silent_p.C482C|EGFR_ENST00000342916.3_Silent_p.C535C|EGFR_ENST00000344576.2_Silent_p.C535C NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 535 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.C535C(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCAGGGAATGCGTGGACAAGT 0.567000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 4 222 0 0 1 0 0 C4orf51 646603 broad.mit.edu 37 4 146650335 146650335 + Missense_Mutation SNP G G T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr4:146650335G>T ENST00000438731.1 + 4 381 c.381G>T c.(379-381)tgG>tgT p.W127C NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 127 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 ATCAAATTTGGGATTTTGGTG 0.313000 5 7 5.9392e-07 6.54524e-07 1 1 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 12 0.004672 0.00476015 1 1 0 OR5M1 390168 broad.mit.edu 37 11 56380363 56380363 + Missense_Mutation SNP T T G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr11:56380363T>G ENST00000526538.1 - 1 615 c.616A>C c.(616-618)Aat>Cat p.N206H NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 CTTGAGAGATTAAAGCCTGCA 0.443000 37 73 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540948 40540948 + Silent SNP A A G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr19:40540948A>G ENST00000434248.1 - 5 1883 c.1818T>C c.(1816-1818)ttT>ttC p.F606F ZNF780B_ENST00000221355.6_Silent_p.F458F NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CACCAGTATGAAATTTCTGAT 0.418000 9 129 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230198 38230198 + Missense_Mutation SNP C C A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr19:38230198C>A ENST00000339503.4 - 8 1520 c.1019G>T c.(1018-1020)gGt>gTt p.G340V ZNF573_ENST00000590414.2_Missense_Mutation_p.G398V|ZNF573_ENST00000392138.1_Missense_Mutation_p.G311V|ZNF573_ENST00000357309.3_Missense_Mutation_p.G310V|ZNF573_ENST00000536220.1_Missense_Mutation_p.G310V NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) GAGTTTTGAACCAGTAGTATA 0.378000 25 139 7.92952e-12 9.11051e-12 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228846444 228846444 + Nonsense_Mutation SNP C C A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr2:228846444C>A ENST00000392056.3 - 12 5138 c.5092G>T c.(5092-5094)Gaa>Taa p.E1698* SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1669* NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1698 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TATCCCAGTTCCAAGAGCCAG 0.428000 7 73 0.00448238 0.00465478 1 1 0 TRIM46 80128 broad.mit.edu 37 1 155147951 155147951 + Silent SNP C C T rs149212033 TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr1:155147951C>T ENST00000392451.2 + 2 236 c.153C>T c.(151-153)aaC>aaT p.N51N TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Silent_p.N58N|TRIM46_ENST00000334634.4_Silent_p.N51N|TRIM46_ENST00000368385.4_Silent_p.N51N|TRIM46_ENST00000368382.1_Silent_p.N28N|TRIM46_ENST00000368383.3_Silent_p.N51N|TRIM46_ENST00000468878.1_3'UTR Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 51 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GTACCCACAACGTGTGCCAGG 0.607000 13 169 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111761374 111761374 + Missense_Mutation SNP T T C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr9:111761374T>C ENST00000374595.4 - 2 383 c.304A>G c.(304-306)Att>Gtt p.I102V CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I102V Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 102 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) ATACAAGCAATATTTATTTCT 0.338000 42 53 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41277810 41277810 + Missense_Mutation SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr22:41277810C>T ENST00000357137.4 + 3 302 c.218C>T c.(217-219)gCa>gTa p.A73V XPNPEP3_ENST00000541156.1_Missense_Mutation_p.A73V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A50V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.A73V NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 73 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 GTGGAATATGCACTTCGCAGA 0.453000 4 82 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237684 140237684 + Missense_Mutation SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr5:140237684G>A ENST00000307360.5 + 1 2051 c.2051G>A c.(2050-2052)gGc>gAc p.G684D PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTCAGTGGGCGTGGCGCCC 0.657000 23 48 0 0 1 0 0 NXPE3 91775 broad.mit.edu 37 3 101535763 101535763 + Silent SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr3:101535763G>A ENST00000422132.1 + 4 1244 c.1047G>A c.(1045-1047)gaG>gaA p.E349E NXPE3_ENST00000491511.1_Silent_p.E349E|NXPE3_ENST00000477909.1_Silent_p.E349E|NXPE3_ENST00000273347.5_Silent_p.E349E neurexophilin and PC-esterase domain family, member 3 ACATTACAGAGTGCTTACAAA 0.398000 14 213 0 0 1 0 0 CDK10 8558 broad.mit.edu 37 16 89760586 89760586 + Missense_Mutation SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr16:89760586G>A ENST00000331006.8 + 8 2214 c.473G>A c.(472-474)cGa>cAa p.R158Q CDK10_ENST00000505473.1_Missense_Mutation_p.R134Q|CDK10_ENST00000353379.7_Missense_Mutation_p.R205Q Q15131 CDK10_HUMAN cyclin-dependent kinase 10 205 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) TGTAGGTACCGAGCCCCTGAA 0.637000 3 24 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40323995 40323995 + Silent SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr17:40323995G>A ENST00000264661.3 - 7 1338 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L KCNH4_ENST00000607371.1_Silent_p.L336L NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 336 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) aCTGTCTTCAGTAGGTGCACC 0.647000 4 18 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904578 5904578 + Silent SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr20:5904578C>T ENST00000378961.4 + 4 1992 c.1788C>T c.(1786-1788)gaC>gaT p.D596D NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 596 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCAAGCTGGACCTGAAAAGGC 0.517000 7 64 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231931019 231931019 + Missense_Mutation SNP T T C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr1:231931019T>C ENST00000439617.2 + 7 1719 c.1666T>C c.(1666-1668)Tca>Cca p.S556P DISC1_ENST00000602281.1_Missense_Mutation_p.S556P|DISC1_ENST00000366633.3_Missense_Mutation_p.S556P|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S556P|DISC1_ENST00000539444.1_Missense_Mutation_p.S556P|DISC1_ENST00000366636.4_Missense_Mutation_p.S556P NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 556 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) CCTCAACTTGTCACTTAAAGA 0.348000 6 46 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51457368 51457368 + Missense_Mutation SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr3:51457368C>T ENST00000335891.5 - 7 1718 c.1709G>A c.(1708-1710)tGc>tAc p.C570Y Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1019 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TGGATTCTTGCAGCGAGCATG 0.488000 5 164 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088367 94088367 + Silent SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr14:94088367G>A ENST00000553484.1 + 31 5008 c.4854G>A c.(4852-4854)ccG>ccA p.P1618P UNC79_ENST00000256339.4_Silent_p.P1419P|UNC79_ENST00000555664.1_Silent_p.P1596P|UNC79_ENST00000393151.2_Silent_p.P1596P Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1596 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTGACTCGCCGGTAAAGCCTG 0.478000 4 127 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148885755 148885755 + Missense_Mutation SNP C C A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr3:148885755C>A ENST00000296051.2 + 16 3012 c.2872C>A c.(2872-2874)Ctg>Atg p.L958M HPS3_ENST00000460120.1_Missense_Mutation_p.L793M NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 958 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCAACTCTACCTGTCATCATT 0.299000 Hermansky-Pudlak syndrome 21 30 3.8784e-16 4.55291e-16 1 1 0 NOTCH3 4854 broad.mit.edu 37 19 15278212 15278212 + Missense_Mutation SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr19:15278212G>A ENST00000263388.2 - 29 5285 c.5210C>T c.(5209-5211)cCa>cTa p.P1737L NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1737 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCCCATGCCTGGCTCCTCTAC 0.622000 25 41 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225362501 225362501 + Missense_Mutation SNP A A C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr2:225362501A>C ENST00000264414.4 - 12 2014 c.1676T>G c.(1675-1677)cTc>cGc p.L559R CUL3_ENST00000409777.1_Missense_Mutation_p.L535R|CUL3_ENST00000409096.1_Missense_Mutation_p.L535R|CUL3_ENST00000344951.4_Missense_Mutation_p.L493R NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 559 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TGTGGCATTGAGATCTGCAGA 0.353000 32 63 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47694671 47694671 + Missense_Mutation SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr16:47694671G>A ENST00000455779.1 + 23 2301 c.2116G>A c.(2116-2118)Gat>Aat p.D706N PHKB_ENST00000299167.8_Missense_Mutation_p.D713N|PHKB_ENST00000566044.1_Missense_Mutation_p.D706N|PHKB_ENST00000323584.5_Missense_Mutation_p.D713N Q93100 KPBB_HUMAN phosphorylase kinase, beta 713 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) ACAGCAGCCGGATGTCAACAT 0.463000 66 76 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103564150 103564150 + Silent SNP C C T rs150929068 TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr8:103564150C>T ENST00000285402.3 + 1 351 c.195C>T c.(193-195)tgC>tgT p.C65C NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 65 2 X 5 AA repeats of [RC]-C-L-C-D. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CACGCTCTTGCGGCCTGTGTG 0.507000 5 368 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38633280 38633280 + Silent SNP C C A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr19:38633280C>A ENST00000222345.6 + 12 3972 c.3463C>A c.(3463-3465)Cga>Aga p.R1155R NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1155 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCCTCCCTACCGACAGCCTTC 0.572000 OREG0025445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 132 225 1.74412e-57 2.09294e-57 1 1 0 DDX60 55601 broad.mit.edu 37 4 169173727 169173727 + Missense_Mutation SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr4:169173727C>T ENST00000393743.3 - 27 3929 c.3638G>A c.(3637-3639)tGt>tAt p.C1213Y DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1213 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTTCTCTAGACACTTCACTAG 0.388000 65 112 0 0 1 0 0 MTAP 4507 broad.mit.edu 37 9 21854677 21854677 + Silent SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr9:21854677G>A ENST00000380172.4 + 6 704 c.498G>A c.(496-498)aaG>aaA p.K166K RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Silent_p.K183K|MTAP_ENST00000580900.1_Silent_p.K166K NM_002451.3 NP_002442.2 Q13126 MTAP_HUMAN methylthioadenosine phosphorylase 166 nucleoside metabolic process cytoplasm phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) GCCACTCAAAGGGGACAATGG 0.473000 40 62 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 51 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140809212 140809212 + Silent SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr9:140809212G>A ENST00000371372.1 + 5 874 c.729G>A c.(727-729)gaG>gaA p.E243E CACNA1B_ENST00000371355.4_Silent_p.E243E|CACNA1B_ENST00000371357.1_Silent_p.E243E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.E243E|CACNA1B_ENST00000277551.2_Silent_p.E243E NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 243 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TTGGCCTGGAGTTCTACATGG 0.557000 6 26 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 8 42 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58490217 58490217 + Missense_Mutation SNP G G C TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr19:58490217G>C ENST00000341164.4 - 7 2451 c.1831C>G c.(1831-1833)Ctc>Gtc p.L611V ZNF606_ENST00000536132.1_Missense_Mutation_p.L521V NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TGTTTAGTGAGGGCTGAGCGT 0.433000 44 43 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38651315 38651315 + Missense_Mutation SNP G G A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr3:38651315G>A ENST00000413689.1 - 7 1037 c.844C>T c.(844-846)Cgc>Tgc p.R282C SCN5A_ENST00000414099.2_Missense_Mutation_p.R282C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R282C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R282C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R282C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R282C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R282C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R282C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R282C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R282C NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 282 R -> H (in BRS1). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTGAAGTTGCGCACGCACTTG 0.587000 57 55 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740871 37740871 + Silent SNP C C G TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr9:37740871C>G ENST00000539465.1 + 15 2939 c.2346C>G c.(2344-2346)ggC>ggG p.G782G FRMPD1_ENST00000536622.1_Silent_p.G604G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.G651G|FRMPD1_ENST00000377765.3_Silent_p.G782G Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 782 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTCCCCCAGGCCCCCCGTCAG 0.637000 19 39 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 79639042 79639042 + Missense_Mutation SNP G G T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr3:79639042G>T ENST00000464233.1 - 2 133 c.20C>A c.(19-21)cCt>cAt p.P7H NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 7 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding p.P7H(2) breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GACCAAAAAAGGAACATGTTT 0.383000 6 152 8.12818e-05 8.77844e-05 1 1 0 DLX2 1746 broad.mit.edu 37 2 172967129 172967131 + In_Frame_Del DEL GCT GCT - TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr2:172967129_172967131delGCT ENST00000234198.4 - 1 497_499 c.136_138delAGC c.(136-138)del p.S46del DLX2_ENST00000466293.2_In_Frame_Del_p.S46del NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 46 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GCTTGTGGAGgctgctgctgctg 0.739 2 4 --- --- --- --- CADPS2 93664 broad.mit.edu 37 7 122303546 122303546 + Frame_Shift_Del DEL A A - TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr7:122303546delA ENST00000334010.7 - 3 952 c.531delT c.(529-531)ttfs p.F177fs CADPS2_ENST00000313070.7_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000449022.2_Frame_Shift_Del_p.F177fs NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 177 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TGTTTTTCTTAAATACTTCTC 0.398 14 6 --- --- --- --- PTGR1 22949 broad.mit.edu 37 9 114345847 114345848 + Frame_Shift_Del DEL GT GT - TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr9:114345847_114345848delGT ENST00000407693.2 - 6 661_662 c.399_400delAC c.(397-402)ctttfs p.LL133fs PTGR1_ENST00000309195.5_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000238248.3_Frame_Shift_Del_p.LL10fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.LL133fs NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 133 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 CAGATTTCAAGTAGGCCAAAGT 0.421 33 180 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061223 38061228 + In_Frame_Del DEL TCTCGA TCTCGA - TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr14:38061223_38061228delTCTCGA ENST00000250448.2 - 2 822_827 c.761_766delTCGAGA c.(760-768)tac>t p.FEN254del FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TAGCAGCCGTTCTCGAACATGTTGCC 0.689 19 26 --- --- --- --- PHOSPHO1 0 broad.mit.edu 37 17 47302390 47302392 + In_Frame_Del DEL AGG AGG - TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr17:47302390_47302392delAGG ENST00000413580.1 - 3 512_514 c.95_97delCCT c.(94-99)tgc>t p.SC32del PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 0 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) ggagagcagcaggaggaggagga 0.700 2 4 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d5ce82e-de92-420b-abab-003d7bee208e c2fe33a1-6c76-42e6-9708-e7ea911d2f85 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 7 98 --- --- --- ---