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 GSTM3 2947 broad.mit.edu 37 1 110280790 110280790 + Missense_Mutation SNP T T A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr1:110280790T>A ENST00000540225.1 - 6 605 c.295A>T c.(295-297)Att>Ttt p.I99F GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 99 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TCCACTCGAATCTTTTCTTCT 0.473 3 38 --- --- --- --- LY9 4063 broad.mit.edu 37 1 160793350 160793350 + Missense_Mutation SNP A A T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr1:160793350A>T ENST00000368037.5 + 8 1666 c.1552A>T c.(1552-1554)Acc>Tcc p.T518S LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000263285.6_Missense_Mutation_p.T532S|LY9_ENST00000392203.4_Missense_Mutation_p.T442S|LY9_ENST00000368040.1_Missense_Mutation_p.T170S NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCCTACACCCACCTCAGACAG 0.557 4 29 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 215963501 215963501 + Missense_Mutation SNP G G T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr1:215963501G>T ENST00000366943.2 - 51 10468 c.10082C>A c.(10081-10083)aCt>aAt p.T3361N USH2A_ENST00000307340.3_Missense_Mutation_p.T3361N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3361 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATAAGTTCAGTCTCACAGCA 0.383 HNSCC(13;0.011) 5 52 --- --- --- --- CLEC4F 165530 broad.mit.edu 37 2 71043280 71043280 + Missense_Mutation SNP G G T rs148473537 TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr2:71043280G>T ENST00000272367.2 - 4 1309 c.1233C>A c.(1231-1233)gaC>gaA p.D411E CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 411 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 GCAGATTGCTGTCTAACATCT 0.468 3 40 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80530341 80530341 + Missense_Mutation SNP G G A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr2:80530341G>A ENST00000295057.3 - 2 1260 c.604C>T c.(604-606)Cgc>Tgc p.R202C CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 202 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AAAGAGTTGCGCGCCAGACTC 0.587 HNSCC(69;0.2) 10 59 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233244506 233244506 + Missense_Mutation SNP G G A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr2:233244506G>A ENST00000392027.2 + 5 786 c.517G>A c.(517-519)Gtg>Atg p.V173M AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 173 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CACCACACGAGTGCAGCACGC 0.657 13 25 --- --- --- --- HLTF 6596 broad.mit.edu 37 3 148765942 148765942 + Missense_Mutation SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr3:148765942T>C ENST00000310053.5 - 17 1958 c.1765A>G c.(1765-1767)Atc>Gtc p.I589V HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 589 Helicase ATP-binding. chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAATTCTGGATTGGAGTACCT 0.348 16 25 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126372551 126372551 + Silent SNP A A G TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr4:126372551A>G ENST00000394329.3 + 9 10393 c.10380A>G c.(10378-10380)ggA>ggG p.G3460G FAT4_ENST00000335110.5_Silent_p.G1758G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3460 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CGCAGACAGGACAGATCACCG 0.473 18 59 --- --- --- --- C9 735 broad.mit.edu 37 5 39331784 39331784 + Missense_Mutation SNP G G C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr5:39331784G>C ENST00000263408.4 - 5 704 c.609C>G c.(607-609)atC>atG p.I203M C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 203 MACPF. I -> V (in dbSNP:rs13361416). complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTACTTCATAGATCAAAGAAG 0.398 20 24 --- --- --- --- NUDT12 83594 broad.mit.edu 37 5 102890441 102890441 + Splice_Site SNP C C G TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr5:102890441C>G ENST00000230792.2 - 5 1174 c.1078G>C c.(1078-1080)Gga>Cga p.G360R NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Splice_Site_p.G342R NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 360 Nudix hydrolase. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AATGGCTTACCAGGCTCAATA 0.313 3 28 --- --- --- --- COQ3 51805 broad.mit.edu 37 6 99823923 99823923 + Missense_Mutation SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr6:99823923T>C ENST00000254759.3 - 5 646 c.622A>G c.(622-624)Att>Gtt p.I208V COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 208 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TCTTCCACAATCTCTTCCAGG 0.403 4 75 --- --- --- --- TAB2 23118 broad.mit.edu 37 6 149699821 149699821 + Missense_Mutation SNP C C T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr6:149699821C>T ENST00000367456.1 + 4 1347 c.770C>T c.(769-771)aCt>aTt p.T257I TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000538427.1_Missense_Mutation_p.T257I|TAB2_ENST00000536230.1_Missense_Mutation_p.T225I Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 257 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 GGTCCCTGGACTACTTGTCCT 0.488 28 42 --- --- --- --- MACC1 346389 broad.mit.edu 37 7 20180754 20180754 + Missense_Mutation SNP G G C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr7:20180754G>C ENST00000400331.5 - 7 2682 c.2374C>G c.(2374-2376)Ctg>Gtg p.L792V MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 792 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CAGGTATACAGAAAATCATAG 0.358 5 30 --- --- --- --- RAD54B 25788 broad.mit.edu 37 8 95416434 95416434 + Missense_Mutation SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr8:95416434T>C ENST00000336148.5 - 6 939 c.815A>G c.(814-816)cAc>cGc p.H272R NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TACCCACTGGTGATTCTTATC 0.348 Direct reversal of damage;Homologous recombination 13 57 --- --- --- --- TYRP1 7306 broad.mit.edu 37 9 12695765 12695765 + Translation_Start_Site SNP T T G TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr9:12695765T>G ENST00000381137.2 + 0 814 TYRP1_ENST00000388918.5_Missense_Mutation_p.D212E|TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame P17643 TYRP1_HUMAN tyrosinase-related protein 1 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GTGAAGTGGATTTCTCTCATG 0.428 Oculocutaneous Albinism 19 27 --- --- --- --- SPATA31A6 389730 broad.mit.edu 37 9 43627521 43627521 + Missense_Mutation SNP G G A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr9:43627521G>A ENST00000332857.6 - 4 1194 c.1166C>T c.(1165-1167)tCg>tTg p.S389L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CAGCTGTTTCGAGTTCTCTCC 0.483 34 192 --- --- --- --- GOLM1 51280 broad.mit.edu 37 9 88651374 88651374 + Missense_Mutation SNP G G T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr9:88651374G>T ENST00000388712.3 - 7 814 c.646C>A c.(646-648)Cca>Aca p.P216T GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 216 Golgi apparatus|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 TCTGTGTGTGGCAGGCCTGCT 0.582 11 32 --- --- --- --- ARHGAP12 94134 broad.mit.edu 37 10 32101744 32101744 + Missense_Mutation SNP T T A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr10:32101744T>A ENST00000375250.5 - 13 1993 c.1752A>T c.(1750-1752)aaA>aaT p.K584N ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K614N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 614 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) TGCTAGATACTTTAAAGGCTT 0.333 10 35 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50531758 50531758 + Missense_Mutation SNP G G T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr10:50531758G>T ENST00000374144.3 + 3 1456 c.1168G>T c.(1168-1170)Ggg>Tgg p.G390W C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 390 p.G390R(1) endometrium(1) 1 TGGCAAAAAAGGGAAAGAAAG 0.473 10 33 --- --- --- --- PIK3AP1 118788 broad.mit.edu 37 10 98386517 98386517 + Silent SNP G G A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr10:98386517G>A ENST00000339364.5 - 10 1736 c.1617C>T c.(1615-1617)acC>acT p.T539T PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 539 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CAGGAGCAGTGGTCTCTGGTC 0.532 3 30 --- --- --- --- E2F8 79733 broad.mit.edu 37 11 19252363 19252363 + Missense_Mutation SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr11:19252363T>C ENST00000527884.1 - 8 1317 c.1085A>G c.(1084-1086)cAt>cGt p.H362R E2F8_ENST00000250024.4_Missense_Mutation_p.H362R|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 362 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGGAGTAAAATGAATGACTGG 0.418 9 27 --- --- --- --- OR4C13 283092 broad.mit.edu 37 11 49974310 49974310 + Silent SNP A A C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr11:49974310A>C ENST00000555099.1 + 1 368 c.336A>C c.(334-336)ctA>ctC p.L112L NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 AGGTCATCCTACTTACTGTAA 0.428 4 58 --- --- --- --- DAK 26007 broad.mit.edu 37 11 61110228 61110228 + Splice_Site SNP C C A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr11:61110228C>A ENST00000394900.3 + 10 1006 c.777C>A c.(775-777)ggC>ggA p.G259G NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 259 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 TACCCGCAGGCTCCTCAGTTG 0.627 14 23 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62284330 62284330 + Silent SNP C C A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr11:62284330C>A ENST00000378024.4 - 5 17833 c.17559G>T c.(17557-17559)gtG>gtT p.V5853V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5853 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGCCAGGGACACCCCACTCC 0.522 35 69 --- --- --- --- HNRNPA1 3178 broad.mit.edu 37 12 54675192 54675192 + Missense_Mutation SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr12:54675192T>C ENST00000546500.1 + 2 653 c.38T>C c.(37-39)cTg>cCg p.L13P HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.L13P|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 13 Globular A domain. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 CCCGAACAGCTGAGGAAGCTC 0.483 18 26 --- --- --- --- ANXA2 302 broad.mit.edu 37 15 60641330 60641330 + Nonsense_Mutation SNP T T A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr15:60641330T>A ENST00000396024.3 - 13 1063 c.904A>T c.(904-906)Aaa>Taa p.K302* ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302* NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 302 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) GACCTAATTTTCAACATGTCC 0.483 3 30 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53190610 53190610 + Silent SNP T T A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr16:53190610T>A ENST00000566029.1 + 2 818 c.609T>A c.(607-609)tcT>tcA p.S203S CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000398510.3_Silent_p.S203S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 203 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TGAATGTTTCTGGTCCACATA 0.373 26 55 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579592 7579592 + Splice_Site SNP T T C TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr17:7579592T>C ENST00000420246.2 - 4 229 c.e4-2 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAGGGGGACTGTAGATGGGT 0.597 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 41 38 --- --- --- --- OR10H2 26538 broad.mit.edu 37 19 15839766 15839766 + Missense_Mutation SNP A A G TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr19:15839766A>G ENST00000305899.3 + 1 933 c.913A>G c.(913-915)Acc>Gcc p.T305A NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGAAGAGGACCTTCCTCAG 0.527 3 25 --- --- --- --- COX7A1 1346 broad.mit.edu 37 19 36641901 36641901 + Missense_Mutation SNP A A T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr19:36641901A>T ENST00000292907.3 - 4 684 c.223T>A c.(223-225)Tcc>Acc p.S75T COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T NM_001864.2 NP_001855.1 P24310 CX7A1_HUMAN cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) 75 generation of precursor metabolites and energy integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity endometrium(2)|large_intestine(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTGGGGAAGGAGGCCCAGCCA 0.532 4 59 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38933032 38933032 + Missense_Mutation SNP A A T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr19:38933032A>T ENST00000355481.4 + 3 340 c.209A>T c.(208-210)cAg>cTg p.Q70L RYR1_ENST00000359596.3_Missense_Mutation_p.Q70L|RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 70 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCCTGGAGCAGTCCCTGTCT 0.652 15 37 --- --- --- --- SLC1A5 6510 broad.mit.edu 37 19 47278981 47278981 + Missense_Mutation SNP T T A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr19:47278981T>A ENST00000542575.2 - 8 2040 c.1412A>T c.(1411-1413)aAt>aTt p.N471I SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|FKRP_ENST00000600646.1_Intron NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 471 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) ACCTTCTACATTGAGGACGGT 0.552 10 29 --- --- --- --- IZUMO1 284359 broad.mit.edu 37 19 49248542 49248542 + Missense_Mutation SNP T T A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr19:49248542T>A ENST00000332955.2 - 3 786 c.239A>T c.(238-240)gAg>gTg p.E80V NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 80 fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CAGTGTGGCCTCATCTGTCAG 0.498 3 24 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581394 17581394 + Silent SNP G G T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr20:17581394G>T ENST00000246069.7 + 2 361 c.15G>T c.(13-15)gtG>gtT p.V5V DSTN_ENST00000474024.1_5'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 CCTCAGGAGTGCAAGTAGCTG 0.323 3 23 --- --- --- --- CD40 958 broad.mit.edu 37 20 44756996 44756996 + Splice_Site SNP A A T TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr20:44756996A>T ENST00000372285.3 + 8 746 c.674A>T c.(673-675)aAg>aTg p.K225M CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Splice_Site_p.*204Y NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 225 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) CCAACCAATAAGGTAGGTCAC 0.468 Immune Deficiency with Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 12 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762490 131762490 + Nonsense_Mutation SNP G G A TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chrX:131762490G>A ENST00000370836.2 - 4 1994 c.1579C>T c.(1579-1581)Cag>Tag p.Q527* HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421* NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 527 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) AAATGGGTCTGAAGGAGCCTT 0.498 5 13 --- --- --- --- SI 6476 broad.mit.edu 37 3 164712161 164712161 + Frame_Shift_Del DEL A A - rs148726149 TCGA-2A-A8VT-01A-11D-A377-08 TCGA-2A-A8VT-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 517cb9af-54ec-4a7e-b093-16081dcfa7e1 076097b4-8ca9-433c-bd04-799c7e1da5f9 g.chr3:164712161delA ENST00000264382.3 - 41 4787 c.4725delT c.(4723-4725)tttfs p.F1575fs NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1575 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACATTTCAGCAAAAGTTTCAT 0.328 HNSCC(35;0.089) 7 187 --- --- --- ---