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 NOL6 65083 broad.mit.edu 37 9 33468782 33468782 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr9:33468782T>C ENST00000379471.2 - 8 1202 c.1115A>G c.(1114-1116)tAc>tGc p.Y372C NOL6_ENST00000455041.2_Missense_Mutation_p.Y312C|NOL6_ENST00000464829.1_5'UTR Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 372 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CAGGACCTGGTAGCCACTCAT 0.547000 4 314 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 81 0 0 1 0 0 MOAP1 64112 broad.mit.edu 37 14 93650551 93650551 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:93650551T>C ENST00000556883.1 - 2 521 c.37A>G c.(37-39)Atg>Gtg p.M13V MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 13 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) ttcatgtccatccccctgcac 0.507000 3 149 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179997121 179997121 + Silent SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:179997121T>C ENST00000428443.3 - 10 1198 c.882A>G c.(880-882)gaA>gaG p.E294E NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 294 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CTCTTAGTTGTTCTGATCCAG 0.443000 4 142 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10406153 10406153 + Missense_Mutation SNP C C T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr17:10406153C>T ENST00000226207.5 - 24 3107 c.3013G>A c.(3013-3015)Gag>Aag p.E1005K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1005 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGTGGGCCTCCTGGAGAGCC 0.498000 11 127 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805631 54805631 + Nonsense_Mutation SNP C C A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:54805631C>A ENST00000306858.7 + 5 1978 c.1862C>A c.(1861-1863)tCa>tAa p.S621* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 621 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GAAAACCACTCAGTAGCCTTA 0.398000 3 54 0.115264 0.119106 1 1 0 EFS 0 broad.mit.edu 37 14 23828540 23828540 + Missense_Mutation SNP A A G rs147833862 TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:23828540A>G ENST00000216733.3 - 4 1754 c.1147T>C c.(1147-1149)Tat>Cat p.Y383H EFS_ENST00000351354.3_Missense_Mutation_p.Y290H|EFS_ENST00000429593.2_Missense_Mutation_p.Y214H NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 383 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGGTGGACATAGTCATACTCC 0.637000 3 184 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175437077 175437077 + Silent SNP C C T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:175437077C>T ENST00000392547.2 - 5 555 c.456G>A c.(454-456)gtG>gtA p.V152V WIPF1_ENST00000409891.1_Silent_p.V152V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Silent_p.V152V|WIPF1_ENST00000392546.2_Silent_p.V152V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.V152V|WIPF1_ENST00000409415.3_Silent_p.V152V NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 152 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 CTGGAGAAGGCACAGGAAACC 0.602000 6 42 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521451 131521451 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:131521451G>A ENST00000423981.1 + 2 1916 c.1806G>A c.(1804-1806)gaG>gaA p.E602E AMER3_ENST00000321420.4_Silent_p.E602E NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCTCTCGAGAGGAAGAGACAC 0.592000 3 86 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 4 100 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151196719 151196719 + Splice_Site SNP A A G TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:151196719A>G ENST00000409426.1 + 2 530 c.e2-1 PIP5K1A_ENST00000368888.4_Splice_Site|PIP5K1A_ENST00000441902.2_Splice_Site|PIP5K1A_ENST00000368890.4_Intron Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TTTCCCCCCTAGCAGCATCTG 0.383000 3 126 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967097 41967097 + Missense_Mutation SNP G G T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr12:41967097G>T ENST00000298919.7 + 10 2124 c.1736G>T c.(1735-1737)aGa>aTa p.R579I PDZRN4_ENST00000402685.2_Missense_Mutation_p.R839I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R581I Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 839 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCCTCATATAGATATGCAAAC 0.473000 14 171 6.81908e-15 7.28936e-15 1 1 0 ARHGEF2 9181 broad.mit.edu 37 1 155932417 155932417 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:155932417G>A ENST00000368316.1 - 13 1454 c.984C>T c.(982-984)taC>taT p.Y328Y ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000361247.4_Silent_p.Y356Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000368315.3_Silent_p.Y357Y Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 356 DH. 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) TGTCTCGGGCGTACAGCTCCT 0.557000 3 68 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 3 166 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430333 12430333 + Missense_Mutation SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr19:12430333T>C ENST00000293725.5 - 4 711 c.506A>G c.(505-507)tAt>tGt p.Y169C ZNF563_ENST00000595977.1_Missense_Mutation_p.Y169C NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTTACACTCATAGCGTTTCTT 0.433000 43 82 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133065566 133065566 + Missense_Mutation SNP A A G TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:133065566A>G ENST00000326499.6 - 7 1560 c.1436T>C c.(1435-1437)cTc>cCc p.L479P VNN2_ENST00000525270.1_Missense_Mutation_p.L426P|VNN2_ENST00000525289.1_Missense_Mutation_p.L258P NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 479 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CCTCCCAAAGAGTGACACTGT 0.403000 50 51 0 0 1 0 0 TAS2R20 259295 broad.mit.edu 37 12 11149659 11149659 + Silent SNP T T C TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr12:11149659T>C ENST00000538986.1 - 1 815 c.816A>G c.(814-816)ccA>ccG p.P272P TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 272 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 AGTGGAATGATGGATATATGA 0.393000 7 93 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151377730 151377730 + Missense_Mutation SNP T T A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:151377730T>A ENST00000271715.2 - 19 4095 c.3781A>T c.(3781-3783)Att>Ttt p.I1261F POGZ_ENST00000409503.1_Missense_Mutation_p.I1252F|POGZ_ENST00000392723.1_Missense_Mutation_p.I1208F|POGZ_ENST00000368863.2_Missense_Mutation_p.I1166F|POGZ_ENST00000361398.3_Missense_Mutation_p.I1208F|POGZ_ENST00000540984.1_Missense_Mutation_p.I623F|POGZ_ENST00000531094.1_Missense_Mutation_p.I1199F|POGZ_ENST00000491586.1_Missense_Mutation_p.I1217F NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1261 DDE. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AATGGCTGAATTTTGGAGCTA 0.468000 8 192 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60695172 60695172 + Silent SNP C C G TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr11:60695172C>G ENST00000005286.4 + 3 528 c.375C>G c.(373-375)gcC>gcG p.A125A TMEM132A_ENST00000453848.2_Silent_p.A125A NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 125 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ACGTGCGGGCCGTTTCAGTGG 0.632000 13 132 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958879 53958879 + RNA SNP A A G rs147132093 TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr19:53958879A>G ENST00000454407.1 + 0 1571 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACATGCCATCATAGACTTCAT 0.428000 5 260 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48271724 48271724 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr17:48271724G>A ENST00000225964.5 - 23 1718 c.1600C>T c.(1600-1602)Ctg>Ttg p.L534L NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 534 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCACCAGGCAGACCAGCTTCA 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 41 38 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45533062 45533062 + Silent SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr3:45533062G>A ENST00000415258.1 + 12 1434 c.1293G>A c.(1291-1293)cgG>cgA p.R431R LARS2_ENST00000414984.1_Silent_p.R388R|LARS2_ENST00000265537.3_Silent_p.R431R|LARS2-AS1_ENST00000442534.2_RNA Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 431 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) AGAAAGCCCGGGGGAAGAGAG 0.542000 3 75 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169616 33169616 + Missense_Mutation SNP T T A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:33169616T>A ENST00000374677.3 + 2 879 c.506T>A c.(505-507)cTt>cAt p.L169H SLC39A7_ENST00000374675.3_Missense_Mutation_p.L169H NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 169 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CGCTCTCTACTTCAGATCTTG 0.537000 69 63 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218713453 218713453 + Missense_Mutation SNP G G A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr2:218713453G>A ENST00000171887.4 - 17 1864 c.1412C>T c.(1411-1413)tCg>tTg p.S471L TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L|TNS1_ENST00000430930.1_Missense_Mutation_p.S471L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 471 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGCACAGCCGAGCCCCCTGC 0.632000 3 92 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103148316 103148316 + Splice_Site SNP G G T TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:103148316G>T ENST00000262241.6 + 3 671 c.e3+1 RCOR1_ENST00000570597.1_Splice_Site NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding p.?(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 GAAGCAAAGTGTAAGTCTTGG 0.378000 3 54 1 1 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 54 70 0 0 1 0 0 RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 3 3 --- --- --- --- TRIM67 440730 broad.mit.edu 37 1 231299576 231299576 + Frame_Shift_Del DEL G G - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr1:231299576delG ENST00000444294.3 + 1 1719 c.861delG c.(859-861)gcfs p.A287fs TRIM67_ENST00000366652.2_Frame_Shift_Del_p.A287fs|TRIM67_ENST00000449018.3_Frame_Shift_Del_p.A225fs|TRIM67_ENST00000366653.5_Frame_Shift_Del_p.A287fs NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 287 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CGGGAGGCGCGGGGGCGGGGG 0.756 2 4 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 9 308 --- --- --- --- RP1-200K18.1 0 broad.mit.edu 37 6 153117976 153117976 + RNA DEL C C - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr6:153117976delC ENST00000456715.1 - 0 183 GCCCCCTGCTCCCTGGGGGAA 0.468 2 4 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 2 4 --- --- --- --- COG8 84342 broad.mit.edu 37 16 69366761 69366761 + Frame_Shift_Del DEL G G - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr16:69366761delG ENST00000306875.4 - 4 1552 c.1438delC c.(1438-1440)atfs p.H480fs COG8_ENST00000562081.1_Frame_Shift_Del_p.H480fs NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 480 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 TCAGCGCGATGGAAGGCCAGG 0.502 25 40 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763863 72763864 + RNA INS - - A TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr16:72763863_72763864insA ENST00000563328.2 + 0 164 TTCAGCGGTCCAAAACAAAAAA 0.441 2 4 --- --- --- --- RBBP8NL 140893 broad.mit.edu 37 20 60990654 60990666 + Frame_Shift_Del DEL CAGGCAGGGTGGC CAGGCAGGGTGGC - TCGA-EM-A3O7-01A-11D-A21Z-08 TCGA-EM-A3O7-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 170b4810-6ae0-416c-8f15-01352110ddff 4db51cf4-0222-4e25-bf89-39317d38b490 g.chr20:60990654_60990666delCAGGCAGGGTGGC ENST00000252998.1 - 8 751_763 c.595_607delGCCACCCTGCCTG c.(595-609)agfs p.ATLPE199fs NM_080833.2 NP_543023.2 RBBP8 N-terminal like p.A199D(1) GCTCGCGACTCAGGCAGGGTGGCCCCTGGGGAG 0.653 12 82 --- --- --- ---