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 C1orf173 127254 broad.mit.edu 37 1 75037029 75037029 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:75037029C>T ENST00000326665.5 - 14 4583 c.4365G>A c.(4363-4365)caG>caA p.Q1455Q C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1455 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGGCTGCCTCCTGGCCCTCTG 0.592 8 72 --- --- --- --- HHAT 55733 broad.mit.edu 37 1 210637880 210637880 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:210637880C>T ENST00000367010.1 + 8 1115 c.888C>T c.(886-888)ttC>ttT p.F296F HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 296 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGCTCTTTTTCTACGTGAAGT 0.562 33 148 --- --- --- --- HHAT 55733 broad.mit.edu 37 1 210637915 210637915 + Missense_Mutation SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:210637915C>T ENST00000367010.1 + 8 1150 c.923C>T c.(922-924)gCt>gTt p.A308V HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 308 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GGCGTGCCTGCTCTGCTCATG 0.577 24 121 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237923150 237923150 + Silent SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:237923150T>C ENST00000366574.2 + 83 11717 c.11400T>C c.(11398-11400)tgT>tgC p.C3800C RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C|RYR2_ENST00000542537.1_Silent_p.C3784C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3800 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) TGCAGTCATGTAGGTAAGGAC 0.433 14 29 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114274943 114274943 + Silent SNP A A G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr4:114274943A>G ENST00000357077.4 + 38 5222 c.5169A>G c.(5167-5169)gcA>gcG p.A1723A ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1690 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGCTAGTGCAGAGAAAGCTG 0.423 13 209 --- --- --- --- HHIP 64399 broad.mit.edu 37 4 145580946 145580946 + Missense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr4:145580946G>A ENST00000296575.3 + 4 1442 c.787G>A c.(787-789)Gag>Aag p.E263K HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP_ENST00000511314.1_3'UTR NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 263 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AATTTTCAAGGAGCCTTATTT 0.373 6 112 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350830 146350830 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr6:146350830C>T ENST00000392299.2 + 2 647 c.177C>T c.(175-177)gcC>gcT p.A59A GRM1_ENST00000355289.4_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 59 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGCCTCCGGCCGAGAAAGTGC 0.587 5 65 --- --- --- --- RUNDC3B 154661 broad.mit.edu 37 7 87369182 87369182 + Silent SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:87369182T>C ENST00000338056.3 + 6 996 c.585T>C c.(583-585)aaT>aaC p.N195N RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.N178N NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 195 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TAGGACTCAATGCTATTGATT 0.308 4 43 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151962178 151962178 + Missense_Mutation SNP G G T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:151962178G>T ENST00000355193.2 - 8 1347 c.1129C>A c.(1129-1131)Cca>Aca p.P377T KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T lysine (K)-specific methyltransferase 2C CGTTTTAATGGAGTAACCGCT 0.453 28 528 --- --- --- --- MTFR1 9650 broad.mit.edu 37 8 66619384 66619384 + Silent SNP C C A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr8:66619384C>A ENST00000262146.4 + 6 783 c.657C>A c.(655-657)gcC>gcA p.A219A MTFR1_ENST00000458689.2_Silent_p.A186A|MTFR1_ENST00000517944.1_3'UTR NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 219 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) AGAAAAGAGCCAATGCTGGAA 0.473 4 73 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106456601 106456601 + Missense_Mutation SNP A A C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr8:106456601A>C ENST00000407775.2 + 3 543 c.293A>C c.(292-294)gAt>gCt p.D98A ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 98 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GACGACTGGGATGGACCAGGT 0.423 3 12 --- --- --- --- DCAF10 79269 broad.mit.edu 37 9 37801316 37801316 + Silent SNP C C G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr9:37801316C>G ENST00000242323.7 + 1 527 c.453C>G c.(451-453)ctC>ctG p.L151L RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 151 CUL4 RING ubiquitin ligase complex central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 TGACTAGCCTCTACGGTTCCA 0.682 4 9 --- --- --- --- CATSPER1 117144 broad.mit.edu 37 11 65789325 65789325 + Silent SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:65789325G>A ENST00000312106.5 - 3 1592 c.1455C>T c.(1453-1455)tcC>tcT p.S485S NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 485 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGAAGAATATGGAGTCCAAGG 0.562 22 50 --- --- --- --- NCKAP1L 3071 broad.mit.edu 37 12 54925128 54925128 + Missense_Mutation SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr12:54925128T>C ENST00000293373.6 + 23 2670 c.2591T>C c.(2590-2592)aTt>aCt p.I864T NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 864 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ACCTCTCAGATTGTGGAGCTG 0.502 4 217 --- --- --- --- AP1G2 8906 broad.mit.edu 37 14 24035556 24035556 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr14:24035556C>T ENST00000308724.5 - 3 1157 c.402G>A c.(400-402)gaG>gaA p.E134E AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 134 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CTCGGCACATCTCAGCAGAGC 0.617 21 44 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70902478 70902478 + Nonsense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr16:70902478G>A ENST00000393567.2 - 66 11455 c.11305C>T c.(11305-11307)Cga>Tga p.R3769* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3769 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTTACTTTTCGTTTTGTAGTG 0.507 8 21 --- --- --- --- AP1G1 164 broad.mit.edu 37 16 71779049 71779049 + Missense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr16:71779049G>A ENST00000299980.4 - 19 2438 c.1997C>T c.(1996-1998)aCa>aTa p.T666I AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 666 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TGCCTCACCTGTAAGGTTGAT 0.448 8 88 --- --- --- --- LRRC75A-AS1 125144 broad.mit.edu 37 17 16344431 16344431 + RNA SNP C C G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr17:16344431C>G ENST00000475953.1 + 0 527 C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA NR_027667.1 AGCAGCATCTCAGCCCAAGAG 0.473 29 79 --- --- --- --- RASD1 51655 broad.mit.edu 37 17 17398953 17398953 + Missense_Mutation SNP A A G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr17:17398953A>G ENST00000225688.3 - 2 543 c.332T>C c.(331-333)tTc>tCc p.F111S RASD1_ENST00000579152.1_Intron NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 111 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 CACCTCCTCGAAGGAGTCGCG 0.592 3 28 --- --- --- --- LAMA5 3911 broad.mit.edu 37 20 60887497 60887497 + Missense_Mutation SNP T T G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr20:60887497T>G ENST00000252999.3 - 68 9385 c.9319A>C c.(9319-9321)Aac>Cac p.N3107H NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3107 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGTCGTGTTCAGCCGCTTG 0.692 4 9 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049505 11049505 + RNA SNP G G T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr21:11049505G>T ENST00000470054.1 - 0 603 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) CGTTTTAATGGAGTAACCGCT 0.458 7 205 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40708548 40708548 + Missense_Mutation SNP T T G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr22:40708548T>G ENST00000454349.2 + 18 4686 c.4475T>G c.(4474-4476)aTt>aGt p.I1492S TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1492 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ATCCAAAACATTGACCCTGAA 0.448 5 93 --- --- --- ---