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 CHD5 26038 broad.mit.edu 37 1 6228311 6228311 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:6228311A>T ENST00000262450.3 - 2 205 c.106T>A c.(106-108)Ttc>Atc p.F36I CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 36 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AAGTCATCGAAGGCTTCAAGA 0.498 6 217 --- --- --- --- DMRTA2 63950 broad.mit.edu 37 1 50885066 50885066 + Silent SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:50885066C>T ENST00000404795.3 - 3 1292 c.900G>A c.(898-900)gcG>gcA p.A300A DMRTA2_ENST00000418121.1_Silent_p.A300A NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 300 Gly-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 CTGGCGCCGGCGCGGCCTCAC 0.721 9 111 --- --- --- --- DAB1 1600 broad.mit.edu 37 1 57480801 57480801 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:57480801C>T ENST00000371236.2 - 12 1462 c.1199G>A c.(1198-1200)aGt>aAt p.S400N DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 433 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGTCTGTGGACTTGACCTGGT 0.592 8 89 --- --- --- --- DEPDC1 55635 broad.mit.edu 37 1 68944925 68944925 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:68944925C>A ENST00000456315.2 - 10 2128 c.2014G>T c.(2014-2016)Gtt>Ttt p.V672F RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 672 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) AAGAAAGAAACTAATCTTCCA 0.353 6 47 --- --- --- --- LYSMD1 388695 broad.mit.edu 37 1 151137675 151137675 + Silent SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:151137675C>T ENST00000368908.5 - 1 720 c.60G>A c.(58-60)cgG>cgA p.R20R LYSMD1_ENST00000440902.2_Intron NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain containing 1 20 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 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;0.211) ATGAACGAGCCCGGCTCCCTT 0.622 32 69 --- --- --- --- CD5L 922 broad.mit.edu 37 1 157804437 157804437 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:157804437A>T ENST00000368174.4 - 4 574 c.478T>A c.(478-480)Tat>Aat p.Y160N NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 160 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CACACGGTATACCACTGGTTC 0.617 21 127 --- --- --- --- ITLN1 55600 broad.mit.edu 37 1 160850469 160850469 + Silent SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:160850469C>T ENST00000326245.3 - 6 709 c.594G>A c.(592-594)aaG>aaA p.K198K ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 198 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CAGTCCAACACTTTCCTTCTC 0.458 8 142 --- --- --- --- SELP 6403 broad.mit.edu 37 1 169582313 169582313 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:169582313A>G ENST00000263686.6 - 5 666 c.629T>C c.(628-630)cTc>cCc p.L210P SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367792.2_Missense_Mutation_p.L210P NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 210 Sushi 1. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GCAGTTCATGAGCACGTGTTG 0.463 14 57 --- --- --- --- SEC16B 89866 broad.mit.edu 37 1 177927436 177927436 + Missense_Mutation SNP T T A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:177927436T>A ENST00000308284.6 - 10 1285 c.1196A>T c.(1195-1197)tAc>tTc p.Y399F SEC16B_ENST00000464631.2_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 399 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CTGCCGCTTGTACTTCTCCAG 0.572 9 33 --- --- --- --- HSD11B1 3290 broad.mit.edu 37 1 209879155 209879155 + Splice_Site SNP G G C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:209879155G>C ENST00000367028.2 + 3 257 c.e3-1 RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GGGTTCCCCAGAGATGCTCCA 0.488 6 81 --- --- --- --- OR2T4 127074 broad.mit.edu 37 1 248525215 248525215 + Silent SNP C C T rs148489116 TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr1:248525215C>T ENST00000366475.1 + 1 333 c.333C>T c.(331-333)ccC>ccT p.P111P NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCACTGTGCCCAAGATGCTCC 0.488 18 262 --- --- --- --- COLEC11 78989 broad.mit.edu 37 2 3691606 3691606 + Silent SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:3691606C>T ENST00000403096.3 + 6 1127 c.636C>T c.(634-636)gaC>gaT p.D212D COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000382062.2_Silent_p.D214D NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 238 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) ATGCCTACGACGAGGAGGACT 0.592 7 107 --- --- --- --- RAD51AP2 729475 broad.mit.edu 37 2 17696504 17696504 + Missense_Mutation SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:17696504T>C ENST00000399080.2 - 1 3202 c.3179A>G c.(3178-3180)gAa>gGa p.E1060G NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1060 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATTAGGAACTTCCTGTTCTCC 0.348 3 16 --- --- --- --- APOB 338 broad.mit.edu 37 2 21258471 21258471 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:21258471A>G ENST00000233242.1 - 7 930 c.803T>C c.(802-804)cTg>cCg p.L268P APOB_ENST00000399256.4_Missense_Mutation_p.L268P NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 268 Heparin-binding.|Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGAGAAAGGCAGGAAGAGGTG 0.493 4 60 --- --- --- --- SRBD1 55133 broad.mit.edu 37 2 45773897 45773897 + Silent SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:45773897A>G ENST00000263736.4 - 14 1910 c.1848T>C c.(1846-1848)taT>taC p.Y616Y SRBD1_ENST00000535761.1_Silent_p.Y135Y NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 616 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GTGGTGCAAAATAATTCTTCA 0.403 3 65 --- --- --- --- NAGK 55577 broad.mit.edu 37 2 71300700 71300700 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:71300700A>T ENST00000418807.3 + 5 566 c.402A>T c.(400-402)aaA>aaT p.K134N NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000244204.6_Missense_Mutation_p.K185N|NAGK_ENST00000443938.2_Missense_Mutation_p.K185N|NAGK_ENST00000443872.2_Missense_Mutation_p.K37N Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 185 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) GCTACGTCAAACAGGCCATGT 0.522 27 219 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128477088 128477088 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:128477088C>A ENST00000322313.4 - 16 2669 c.2511G>T c.(2509-2511)caG>caT p.Q837H NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 837 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GTGGAGGCCCCTGCATGCCTC 0.632 22 37 --- --- --- --- SCN2A 6326 broad.mit.edu 37 2 166245953 166245953 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:166245953G>T ENST00000375437.2 + 27 5927 c.5637G>T c.(5635-5637)atG>atT p.M1879I SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1879 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAATACAGATGGAAGAGCGAT 0.463 4 81 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166848422 166848422 + Missense_Mutation SNP T T A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:166848422T>A ENST00000423058.2 - 26 5380 c.5363A>T c.(5362-5364)aAc>aTc p.N1788I AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1788 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AACACTGAAGTTCTCCAGGAT 0.448 6 161 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201438669 201438669 + Missense_Mutation SNP A A C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:201438669A>C ENST00000357799.4 + 7 3698 c.3600A>C c.(3598-3600)aaA>aaC p.K1200N NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 1200 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.K1200N(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TGAAATTTAAAGTCAACCGGA 0.318 4 58 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220350132 220350132 + Silent SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:220350132A>G ENST00000312358.7 + 31 7806 c.7674A>G c.(7672-7674)ttA>ttG p.L2558L AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2558 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACAAGGGGTTATCGCCACCAA 0.612 4 107 --- --- --- --- STK11IP 114790 broad.mit.edu 37 2 220473351 220473351 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:220473351G>T ENST00000456909.1 + 15 1740 c.1650G>T c.(1648-1650)gaG>gaT p.E550D STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 561 Glu-rich. protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGGCCTGAGGGCGTACGGG 0.602 3 54 --- --- --- --- HDLBP 3069 broad.mit.edu 37 2 242189366 242189366 + Missense_Mutation SNP A A C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:242189366A>C ENST00000391975.1 - 12 1629 c.1402T>G c.(1402-1404)Tcc>Gcc p.S468A HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 468 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATGCGCACGGACACCTTGTAC 0.517 7 115 --- --- --- --- THAP4 51078 broad.mit.edu 37 2 242573471 242573471 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr2:242573471C>T ENST00000407315.1 - 2 532 c.101G>A c.(100-102)cGt>cAt p.R34H NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 34 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) TTGGATTAGACGTTTTGAGTC 0.368 7 93 --- --- --- --- CPNE9 151835 broad.mit.edu 37 3 9771372 9771372 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:9771372C>T ENST00000383832.3 + 21 1848 c.1658C>T c.(1657-1659)cCc>cTc p.P553L NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 553 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CCAGAGCAGCCCTGAGGATTC 0.612 4 42 --- --- --- --- CADPS 8618 broad.mit.edu 37 3 62570916 62570916 + Silent SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:62570916A>G ENST00000383710.4 - 8 1870 c.1521T>C c.(1519-1521)gaT>gaC p.D507D CADPS_ENST00000357948.3_Silent_p.D507D|CADPS_ENST00000283269.9_Silent_p.D507D NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 507 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGATTTTGAGATCTTGGTCGG 0.468 6 119 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89445000 89445000 + Silent SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:89445000C>A ENST00000336596.2 + 6 1545 c.1320C>A c.(1318-1320)gtC>gtA p.V440V EPHA3_ENST00000452448.2_Silent_p.V440V|EPHA3_ENST00000494014.1_Silent_p.V440V NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 440 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CATCACCTGTCCTGACGATTA 0.463 TSP Lung(6;0.00050) 20 112 --- --- --- --- CD200R1 131450 broad.mit.edu 37 3 112648324 112648324 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:112648324G>T ENST00000471858.1 - 3 396 c.164C>A c.(163-165)aCa>aAa p.T55K CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 55 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 CACAGCATTTGTAGCCATCTT 0.383 4 93 --- --- --- --- PLXNA1 5361 broad.mit.edu 37 3 126748316 126748316 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:126748316A>G ENST00000251772.4 + 26 4807 c.4738A>G c.(4738-4740)Aag>Gag p.K1580E PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1603E Q9UIW2 PLXA1_HUMAN plexin A1 1603 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACTGGTGCCCAAGCAGACGTC 0.667 11 178 --- --- --- --- ATP11B 23200 broad.mit.edu 37 3 182586927 182586927 + Nonsense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:182586927C>T ENST00000323116.5 + 16 2010 c.1750C>T c.(1750-1752)Cag>Tag p.Q584* NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 584 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TGTAATTGTTCAGGCACCTTC 0.299 3 29 --- --- --- --- ATP11B 23200 broad.mit.edu 37 3 182587059 182587059 + Silent SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:182587059C>T ENST00000323116.5 + 17 2066 c.1806C>T c.(1804-1806)ctC>ctT p.L602L NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 602 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CATCAATTCTCCCTAAATGTA 0.284 4 20 --- --- --- --- ATP11B 23200 broad.mit.edu 37 3 182587060 182587060 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:182587060C>T ENST00000323116.5 + 17 2067 c.1807C>T c.(1807-1809)Cct>Tct p.P603S NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 603 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATCAATTCTCCCTAAATGTAT 0.284 4 21 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183669276 183669276 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr3:183669276G>A ENST00000334444.6 - 20 3137 c.2897C>T c.(2896-2898)aCc>aTc p.T966I ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 966 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCCTGTGGGGGTCGTGTCAAA 0.512 5 93 --- --- --- --- UGT2B11 10720 broad.mit.edu 37 4 70074167 70074167 + Missense_Mutation SNP T T A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr4:70074167T>A ENST00000446444.1 - 3 912 c.904A>T c.(904-906)Aat>Tat p.N302Y RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 302 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 ACAACACCATTTTCTCCAGAG 0.423 12 177 --- --- --- --- ZFP42 132625 broad.mit.edu 37 4 188924707 188924707 + Missense_Mutation SNP T T G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr4:188924707T>G ENST00000326866.4 + 4 1154 c.746T>G c.(745-747)tTt>tGt p.F249C ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 249 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) CGGTGCACTTTTGAAGGGTGC 0.517 13 59 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 89933655 89933655 + Silent SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr5:89933655T>C ENST00000405460.2 + 11 2226 c.2130T>C c.(2128-2130)ttT>ttC p.F710F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 710 Calx-beta 5. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGGCCCCTTTAATGGCTCTG 0.423 4 41 --- --- --- --- IL9 3578 broad.mit.edu 37 5 135228145 135228145 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr5:135228145A>G ENST00000274520.1 - 5 380 c.370T>C c.(370-372)Ttt>Ctt p.F124L NM_000590.1 NP_000581.1 P15248 IL9_HUMAN interleukin 9 124 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity large_intestine(3)|lung(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCTTCAGAAATGTCAGCGCG 0.378 7 47 --- --- --- --- CD83 9308 broad.mit.edu 37 6 14131886 14131886 + Missense_Mutation SNP A A C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:14131886A>C ENST00000379153.3 + 3 460 c.289A>C c.(289-291)Act>Cct p.T97P NM_001040280.1|NM_001251901.1|NM_004233.3 NP_001035370.1|NP_001238830.1|NP_004224.1 Q01151 CD83_HUMAN CD83 molecule 97 Ig-like V-type. defense response|humoral immune response|signal transduction integral to plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 12 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) GATCCGAAACACTACCAGCTG 0.542 7 122 --- --- --- --- HIST1H2BE 8344 broad.mit.edu 37 6 26184078 26184078 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:26184078G>A ENST00000356530.3 + 1 121 c.55G>A c.(55-57)Gtg>Atg p.V19M NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 19 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CAAGAAGGCCGTGACCAAGGC 0.547 4 150 --- --- --- --- BACH2 60468 broad.mit.edu 37 6 90661075 90661075 + Silent SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:90661075G>A ENST00000257749.4 - 7 1457 c.750C>T c.(748-750)acC>acT p.T250T RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.T250T NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 250 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CAAAACCTGAGGTACTGTGTG 0.493 4 119 --- --- --- --- SOBP 55084 broad.mit.edu 37 6 107827592 107827592 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:107827592G>A ENST00000317357.5 + 3 1041 c.382G>A c.(382-384)Gta>Ata p.V128I NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 128 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GCCCATTATTGTACCTTTAAT 0.423 17 162 --- --- --- --- ARMC2 84071 broad.mit.edu 37 6 109274248 109274248 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:109274248C>T ENST00000392644.4 + 13 1777 c.1609C>T c.(1609-1611)Cgt>Tgt p.R537C ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 537 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TTTAGTCGTCCGTGTTGTTTT 0.398 4 13 --- --- --- --- ROS1 6098 broad.mit.edu 37 6 117662661 117662661 + Silent SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:117662661G>A ENST00000368508.3 - 29 5002 c.4804C>T c.(4804-4806)Cta>Tta p.L1602L ROS1_ENST00000368507.3_Silent_p.L1596L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1602 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCAGGAATTAGGGCCAGGTGT 0.428 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 5 91 --- --- --- --- ADGRG6 57211 broad.mit.edu 37 6 142691627 142691627 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:142691627G>T ENST00000230173.6 + 4 1242 c.766G>T c.(766-768)Gtt>Ttt p.V256F GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.V256F NM_020455.5 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 256 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.V256F(1)|p.V255F(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GCTCTGCCTTGTTTGGAATAA 0.333 5 59 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151243383 151243383 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr6:151243383C>T ENST00000367321.3 + 10 1301 c.1027C>T c.(1027-1029)Cac>Tac p.H343Y NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 343 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TGAACAGCAGCACAGGCGGTG 0.493 25 61 --- --- --- --- SEMA3E 9723 broad.mit.edu 37 7 83037758 83037758 + Missense_Mutation SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr7:83037758T>C ENST00000307792.3 - 6 1063 c.596A>G c.(595-597)gAc>gGc p.D199G SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 199 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GATCGCAGCGTCTCTGCTCCA 0.458 12 21 --- --- --- --- OCM2 4951 broad.mit.edu 37 7 97614280 97614280 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr7:97614280A>G ENST00000257627.4 - 4 411 c.320T>C c.(319-321)gTg>gCg p.V107A NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 107 EF-hand 2. calcium ion binding lung(4) 4 TTAAGAATGCACCATTTCCTG 0.498 15 20 --- --- --- --- LRRN3 54674 broad.mit.edu 37 7 110763905 110763905 + Missense_Mutation SNP C C G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr7:110763905C>G ENST00000451085.1 + 4 2123 c.1077C>G c.(1075-1077)aaC>aaG p.N359K IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 359 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CTCTGCCAAACCTCAAGGAAA 0.468 4 68 --- --- --- --- SSMEM1 136263 broad.mit.edu 37 7 129853359 129853359 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr7:129853359A>T ENST00000297819.3 + 2 274 c.223A>T c.(223-225)Act>Tct p.T75S NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 TGGGACAAGTACTTCAGTAAG 0.408 5 66 --- --- --- --- TRBV7-7 28591 broad.mit.edu 37 7 142120060 142120060 + RNA SNP T T A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr7:142120060T>A ENST00000390377.1 - 0 106 AGTTACATCCTGTCCCCTCTT 0.473 5 59 --- --- --- --- ANK1 286 broad.mit.edu 37 8 41529908 41529908 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:41529908G>A ENST00000396942.1 - 38 5143 c.5060C>T c.(5059-5061)cCc>cTc p.P1687L ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1687 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTCACGGTGGGGGAATGTGT 0.557 8 96 --- --- --- --- PLAT 5327 broad.mit.edu 37 8 42038168 42038168 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:42038168A>T ENST00000220809.4 - 10 1181 c.925T>A c.(925-927)Ttt>Att p.F309I PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 309 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTGATGCGAAACTGAGGCTGG 0.632 6 58 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61654328 61654328 + Missense_Mutation SNP G G C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:61654328G>C ENST00000423902.2 + 2 816 c.337G>C c.(337-339)Gtg>Ctg p.V113L CHD7_ENST00000525508.1_Missense_Mutation_p.V113L|CHD7_ENST00000524602.1_Missense_Mutation_p.V113L NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 113 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CGTTCCTCAGGTGCCCCATGG 0.592 7 34 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92999165 92999165 + Missense_Mutation SNP G G C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:92999165G>C ENST00000523629.1 - 8 1481 c.1027C>G c.(1027-1029)Cac>Gac p.H343D RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 343 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H306N(1)|p.H354N(1)|p.H343N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTTAGTCTGTGATCAATCATT 0.388 8 171 --- --- --- --- TMEM71 137835 broad.mit.edu 37 8 133740185 133740185 + Missense_Mutation SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:133740185T>C ENST00000356838.3 - 6 620 c.478A>G c.(478-480)Aag>Gag p.K160E TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 179 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCATTCATCTTCCCTGACTCC 0.488 8 109 --- --- --- --- ST3GAL1 6482 broad.mit.edu 37 8 134488181 134488181 + Silent SNP G G C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:134488181G>C ENST00000319914.5 - 4 1114 c.87C>G c.(85-87)tcC>tcG p.S29S ST3GAL1_ENST00000399640.2_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000521180.1_Silent_p.S29S Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 29 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CCATGGTGTGGGAGTAGTTCA 0.572 4 125 --- --- --- --- ARC 23237 broad.mit.edu 37 8 143694473 143694473 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr8:143694473G>A ENST00000356613.2 - 1 2360 c.1160C>T c.(1159-1161)tCc>tTc p.S387F NM_015193.4 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 387 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) ACTGGCCACGGACTCGCTGTT 0.701 6 24 --- --- --- --- GLDC 2731 broad.mit.edu 37 9 6554725 6554725 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr9:6554725G>T ENST00000321612.6 - 19 2409 c.2259C>A c.(2257-2259)caC>caA p.H753Q NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 753 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGAAGGTCTTGTGAAGATTTA 0.542 3 23 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77390917 77390917 + Nonsense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr9:77390917G>T ENST00000451710.3 - 24 3522 c.3285C>A c.(3283-3285)taC>taA p.Y1095* TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1095 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCTTCTCGTGGTAGGTCATGA 0.522 6 113 --- --- --- --- OR13C5 138799 broad.mit.edu 37 9 107361057 107361057 + Nonsense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr9:107361057A>T ENST00000374779.2 - 1 731 c.638T>A c.(637-639)tTa>tAa p.L213* NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GACAATAATTAATAACAAAGG 0.423 8 176 --- --- --- --- CELF2 10659 broad.mit.edu 37 10 11317020 11317020 + Splice_Site SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr10:11317020C>A ENST00000379261.4 + 8 849 c.757C>A c.(757-759)Ctc>Atc p.L253I CELF2_ENST00000450189.1_Splice_Site_p.L260I|CELF2_ENST00000417956.2_Splice_Site_p.L229I|CELF2_ENST00000609692.1_Splice_Site_p.L229I|CELF2_ENST00000315874.4_Splice_Site_p.L229I|CELF2_ENST00000537122.1_Splice_Site_p.L142I|CELF2_ENST00000354440.2_Splice_Site_p.L229I|CELF2_ENST00000399850.3_Splice_Site_p.L229I|CELF2_ENST00000427450.1_Splice_Site_p.L229I|CELF2_ENST00000354897.3_Splice_Site_p.L229I|CELF2_ENST00000542579.1_Splice_Site_p.L260I|CELF2_ENST00000608830.1_Splice_Site_p.L229I|CELF2_ENST00000416382.2_Splice_Site_p.L253I NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 253 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 TCATCCGCAGCTCCTGCAGCA 0.527 26 129 --- --- --- --- SGMS1 259230 broad.mit.edu 37 10 52103736 52103736 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr10:52103736G>A ENST00000361781.2 - 7 1098 c.139C>T c.(139-141)Ccc>Tcc p.P47S SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S|SGMS1_ENST00000429490.1_Intron NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 53 SAM. apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity p.P47T(1) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CACAAGGGGGGTTTTTTGAAA 0.512 7 72 --- --- --- --- TTC18 118491 broad.mit.edu 37 10 75029381 75029381 + Silent SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr10:75029381G>A ENST00000401621.2 - 26 3348 c.3228C>T c.(3226-3228)gtC>gtT p.V1076V TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000394865.1_Silent_p.V1046V|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000355577.3_Silent_p.V545V Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 1076 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CTTTCAGGCAGACCAGAGCCA 0.483 7 66 --- --- --- --- C10orf76 79591 broad.mit.edu 37 10 103649193 103649193 + Silent SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr10:103649193G>A ENST00000370033.4 - 24 1955 c.1836C>T c.(1834-1836)caC>caT p.H612H C10orf76_ENST00000495001.1_5'UTR NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 612 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) GTTGGGATATGTGATTCACAG 0.473 5 325 --- --- --- --- SOX6 55553 broad.mit.edu 37 11 16071443 16071443 + Silent SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:16071443G>T ENST00000352083.6 - 11 1370 c.1293C>A c.(1291-1293)ccC>ccA p.P431P SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000316399.6_Silent_p.P431P P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 431 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 CTGCTGTCTTGGGTCGGGATG 0.463 13 255 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20099637 20099637 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:20099637G>T ENST00000396085.1 + 24 5527 c.5166G>T c.(5164-5166)gaG>gaT p.E1722D NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D|NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1778 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACACACCTGAGCTCAACTGCA 0.473 3 35 --- --- --- --- HIPK3 10114 broad.mit.edu 37 11 33370281 33370281 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:33370281C>A ENST00000303296.4 + 13 2888 c.2583C>A c.(2581-2583)gaC>gaA p.D861E HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E|HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 861 Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TTATTGCCGACTCCCCGAGTC 0.473 7 98 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62290041 62290041 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:62290041G>A ENST00000378024.4 - 5 12122 c.11848C>T c.(11848-11850)Cca>Tca p.P3950S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3950 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) TCCACTTCTGGACCTTCTCCT 0.507 21 390 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 66999361 66999361 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:66999361C>A ENST00000529006.2 + 12 1855 c.1409C>A c.(1408-1410)tCt>tAt p.S470Y KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 AAGTTGGAGTCTCTGCCACTG 0.488 28 182 --- --- --- --- TENM4 26011 broad.mit.edu 37 11 78443391 78443391 + Silent SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:78443391T>C ENST00000278550.7 - 21 3570 c.3108A>G c.(3106-3108)gcA>gcG p.A1036A NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGCCTTTCTCTGCACAGGAGC 0.527 22 53 --- --- --- --- TECTA 7007 broad.mit.edu 37 11 120996041 120996041 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr11:120996041A>T ENST00000392793.1 + 8 1505 c.1234A>T c.(1234-1236)Acc>Tcc p.T412S TECTA_ENST00000264037.2_Missense_Mutation_p.T412S O75443 TECTA_HUMAN tectorin alpha 412 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTTGCCTGTCACCTTAGACTT 0.498 9 221 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49433964 49433964 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:49433964G>A ENST00000301067.7 - 31 7588 c.7589C>T c.(7588-7590)aCc>aTc p.T2530I NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGAGAGGGGGTGCCCACAAA 0.657 4 37 --- --- --- --- KRT75 9119 broad.mit.edu 37 12 52820636 52820636 + Splice_Site SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:52820636C>A ENST00000252245.5 - 8 1603 c.e8-1 RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TCCACTCAACCTGATTGGGAA 0.463 7 52 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80749588 80749588 + Missense_Mutation SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:80749588T>C ENST00000458043.2 + 46 5645 c.5639T>C c.(5638-5640)cTa>cCa p.L1880P OTOGL_ENST00000547103.1_Missense_Mutation_p.L1868P NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GAATGCACTCTATACAAATGT 0.448 10 85 --- --- --- --- AMDHD1 144193 broad.mit.edu 37 12 96354372 96354372 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:96354372G>T ENST00000266736.2 + 5 890 c.784G>T c.(784-786)Gat>Tat p.D262Y NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 262 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CTTCCATGGGGATGAACTCCA 0.408 14 87 --- --- --- --- GNPTAB 79158 broad.mit.edu 37 12 102151047 102151047 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:102151047A>T ENST00000299314.7 - 18 3639 c.3377T>A c.(3376-3378)aTt>aAt p.I1126N NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 1126 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 GTTGGTACGAATCATTTTAAA 0.274 4 37 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104046416 104046416 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:104046416A>G ENST00000388887.2 + 12 1544 c.1340A>G c.(1339-1341)tAt>tGt p.Y447C NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 447 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AACATCGAATATATGAATAAC 0.403 9 29 --- --- --- --- WSCD2 9671 broad.mit.edu 37 12 108603945 108603945 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:108603945G>T ENST00000332082.4 + 5 1363 c.545G>T c.(544-546)gGc>gTc p.G182V WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V Q2TBF2 WSCD2_HUMAN WSC domain containing 2 182 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGCTACTGCGGCCACAAGATC 0.672 4 53 --- --- --- --- WSCD2 9671 broad.mit.edu 37 12 108603946 108603946 + Silent SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr12:108603946C>T ENST00000332082.4 + 5 1364 c.546C>T c.(544-546)ggC>ggT p.G182G WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G Q2TBF2 WSCD2_HUMAN WSC domain containing 2 182 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCTACTGCGGCCACAAGATCC 0.667 4 53 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88328640 88328640 + Missense_Mutation SNP G G C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr13:88328640G>C ENST00000325089.6 + 2 1216 c.997G>C c.(997-999)Ggg>Cgg p.G333R SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 333 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCCCCCTAAGGGGACTCGCCA 0.582 4 161 --- --- --- --- PYGL 5836 broad.mit.edu 37 14 51401885 51401885 + Missense_Mutation SNP C C T rs144099482 byFrequency TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr14:51401885C>T ENST00000216392.7 - 3 696 c.364G>A c.(364-366)Gag>Aag p.E122K PYGL_ENST00000532462.1_Missense_Mutation_p.E122K|PYGL_ENST00000544180.2_Missense_Mutation_p.E88K NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 122 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) TCTTCTAACTCTTCTATATCC 0.418 4 36 --- --- --- --- ZFYVE26 23503 broad.mit.edu 37 14 68272329 68272329 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr14:68272329C>T ENST00000347230.4 - 7 1162 c.1024G>A c.(1024-1026)Gca>Aca p.A342T ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 342 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AATGTTAGTGCTGTTACCTGT 0.433 10 59 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40313180 40313180 + Silent SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr15:40313180A>G ENST00000263791.5 + 31 4297 c.4254A>G c.(4252-4254)aaA>aaG p.K1418K EIF2AK4_ENST00000382727.2_Silent_p.K1390K NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 1418 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TAACCCAGAAACTCTGGACAG 0.478 5 68 --- --- --- --- SEMA6D 80031 broad.mit.edu 37 15 48063581 48063581 + Missense_Mutation SNP C C G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr15:48063581C>G ENST00000316364.5 + 19 3260 c.2821C>G c.(2821-2823)Cca>Gca p.P941A SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 941 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CAGAAATAGCCCAACCAAGCG 0.517 5 161 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62212501 62212501 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr15:62212501A>T ENST00000261517.5 - 57 7315 c.7242T>A c.(7240-7242)ttT>ttA p.F2414L VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2414 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGAGTAGTCAAAAGTAGAAG 0.373 4 36 --- --- --- --- NEO1 4756 broad.mit.edu 37 15 73580727 73580727 + Missense_Mutation SNP G G C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr15:73580727G>C ENST00000339362.5 + 25 3931 c.3484G>C c.(3484-3486)Gat>Cat p.D1162H NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H Q92859 NEO1_HUMAN neogenin 1 1162 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 GAAACCTCCAGATCTCTGGAT 0.463 7 51 --- --- --- --- OTOA 146183 broad.mit.edu 37 16 21690532 21690532 + Splice_Site SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr16:21690532G>T ENST00000388958.3 + 4 180 c.179G>T c.(178-180)aGc>aTc p.S60I OTOA_ENST00000286149.4_Splice_Site_p.S60I NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 60 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CAGTTTCAAAGGTAAAATGCC 0.343 6 55 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578509 7578509 + Missense_Mutation SNP A A C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:7578509A>C ENST00000420246.2 - 5 553 c.421T>G c.(421-423)Tgc>Ggc p.C141G TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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) TGCACAGGGCAGGTCTTGGCC 0.567 111 """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) 13 31 --- --- --- --- MYH13 8735 broad.mit.edu 37 17 10248872 10248872 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:10248872A>T ENST00000418404.3 - 13 1488 c.1325T>A c.(1324-1326)gTc>gAc p.V442D MYH13_ENST00000252172.4_Missense_Mutation_p.V442D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 442 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GATGCGGGTGACCATCCACAG 0.522 10 135 --- --- --- --- TOP3A 7156 broad.mit.edu 37 17 18205596 18205596 + Missense_Mutation SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:18205596T>C ENST00000321105.5 - 7 1010 c.796A>G c.(796-798)Atc>Gtc p.I266V TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 266 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CTGTGGAAGATTTCTGGTACA 0.527 10 41 --- --- --- --- LIG3 3980 broad.mit.edu 37 17 33324773 33324773 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:33324773C>T ENST00000378526.4 + 12 1973 c.1840C>T c.(1840-1842)Cgg>Tgg p.R614W LIG3_ENST00000262327.5_Missense_Mutation_p.R614W NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 614 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GTGTGAGCGGCGGAAGTTTCT 0.488 Other BER factors 6 62 --- --- --- --- GSDMB 55876 broad.mit.edu 37 17 38062397 38062397 + Silent SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:38062397G>A ENST00000394175.2 - 5 1012 c.789C>T c.(787-789)ggC>ggT p.G263G GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000394179.1_Silent_p.G280G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 280 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 TATCCTCCTTGCCGAGGCACT 0.517 10 73 --- --- --- --- KRT23 25984 broad.mit.edu 37 17 39084808 39084808 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:39084808C>T ENST00000209718.3 - 5 1112 c.688G>A c.(688-690)Gat>Aat p.D230N AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.D93N NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 230 Linker 12.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GGACCTGTATCCACCTTCACA 0.408 19 157 --- --- --- --- MKS1 54903 broad.mit.edu 37 17 56285908 56285908 + Missense_Mutation SNP A A C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr17:56285908A>C ENST00000393119.2 - 12 1135 c.1061T>G c.(1060-1062)gTa>gGa p.V354G MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000546108.1_Missense_Mutation_p.V151G NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 354 B9. cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGTCTGTGTTACTCCTGAGAG 0.498 19 35 --- --- --- --- PIK3C3 5289 broad.mit.edu 37 18 39607410 39607410 + Silent SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr18:39607410T>C ENST00000262039.4 + 14 1574 c.1488T>C c.(1486-1488)taT>taC p.Y496Y PIK3C3_ENST00000398870.3_Silent_p.Y433Y|PIK3C3_ENST00000593098.1_5'UTR NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 496 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TTTTAAGGTATGTGATAGTGG 0.333 TSP Lung(28;0.18) 3 38 --- --- --- --- EEF2 1938 broad.mit.edu 37 19 3984203 3984203 + Missense_Mutation SNP C C G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:3984203C>G ENST00000309311.6 - 2 237 c.149G>C c.(148-150)cGg>cCg p.R50P EEF2_ENST00000600720.1_5'UTR NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 50 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCCGGCCCGGGCCGAGGC 0.622 32 121 --- --- --- --- CREB3L3 84699 broad.mit.edu 37 19 4170156 4170156 + Nonsense_Mutation SNP C C G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:4170156C>G ENST00000602147.1 + 6 814 c.734C>G c.(733-735)tCa>tGa p.S245* CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 0 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCACTGCTCAGAATCAGGA 0.562 6 107 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9086744 9086744 + Nonsense_Mutation SNP T T A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:9086744T>A ENST00000397910.4 - 1 5274 c.5071A>T c.(5071-5073)Aga>Tga p.R1691* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1691 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATGCTTCTTCCTGGAGCA 0.478 5 119 --- --- --- --- LDLR 3949 broad.mit.edu 37 19 11233932 11233932 + Silent SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:11233932A>T ENST00000558518.1 + 15 2410 c.2223A>T c.(2221-2223)acA>acT p.T741T LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000557933.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 741 Clustered O-linked oligosaccharides. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CACAGCACACAACCACCCGAC 0.582 9 83 --- --- --- --- ANKLE1 126549 broad.mit.edu 37 19 17394177 17394177 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:17394177A>G ENST00000394458.3 + 5 880 c.604A>G c.(604-606)Aaa>Gaa p.K202E ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E NM_152363.4 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 202 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 AACTGTGGACAAACATGGGAG 0.602 5 125 --- --- --- --- SIGLEC11 114132 broad.mit.edu 37 19 50461937 50461937 + Silent SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:50461937C>A ENST00000447370.2 - 7 1416 c.1326G>T c.(1324-1326)ctG>ctT p.L442L SIGLEC11_ENST00000426971.2_Silent_p.L442L NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 442 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GCTGGGAGCCCAGAGGGTGCT 0.667 12 142 --- --- --- --- LILRB2 10288 broad.mit.edu 37 19 54778668 54778668 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:54778668C>A ENST00000391748.1 - 14 1790 c.1663G>T c.(1663-1665)Gcc>Tcc p.A555S LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 556 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCTGGGGGGCTTCAGATGCA 0.637 4 81 --- --- --- --- TMEM86B 255043 broad.mit.edu 37 19 55739730 55739730 + Missense_Mutation SNP C C A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr19:55739730C>A ENST00000327042.4 - 2 649 c.127G>T c.(127-129)Gac>Tac p.D43Y AC010327.2_ENST00000598855.1_3'UTR NM_173804.4 NP_776165.3 Q8N661 TM86B_HUMAN transmembrane protein 86B 43 ether lipid metabolic process cytoplasmic part|integral to membrane alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GACAGCTGGTCCTCGGGAATC 0.637 4 42 --- --- --- --- DEFB125 245938 broad.mit.edu 37 20 76981 76981 + Missense_Mutation SNP A A T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr20:76981A>T ENST00000382410.2 + 2 394 c.394A>T c.(394-396)Act>Tct p.T132S DEFB125_ENST00000608838.1_3'UTR NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 132 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TACTCCCGAGACTACTATGCC 0.433 8 218 --- --- --- --- MYLK2 85366 broad.mit.edu 37 20 30408169 30408169 + Missense_Mutation SNP C C T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr20:30408169C>T ENST00000375994.2 + 2 566 c.293C>T c.(292-294)cCc>cTc p.P98L MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 98 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCAGCCCTGCCCCAGCAGACT 0.687 7 40 --- --- --- --- MYLK2 85366 broad.mit.edu 37 20 30409476 30409476 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr20:30409476G>T ENST00000375994.2 + 3 981 c.708G>T c.(706-708)gaG>gaT p.E236D MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 236 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TTCCCTCAGAGAAATCCGAGG 0.632 22 118 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30897748 30897748 + Silent SNP C C G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr20:30897748C>G ENST00000375712.3 + 2 335 c.168C>G c.(166-168)acC>acG p.T56T NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 56 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGCCCAAGACCTTCACCTTTG 0.498 5 61 --- --- --- --- JPH2 57158 broad.mit.edu 37 20 42747201 42747201 + Missense_Mutation SNP T T C TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr20:42747201T>C ENST00000372980.3 - 3 2104 c.1232A>G c.(1231-1233)gAg>gGg p.E411G NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 411 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AATGTTGGACTCCTGGTTGGC 0.612 7 191 --- --- --- --- LZTR1 8216 broad.mit.edu 37 22 21349317 21349317 + Splice_Site SNP T T G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr22:21349317T>G ENST00000215739.8 + 16 2301 c.e16+2 LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGACATTGGTAGGGAGCCCC 0.647 9 92 --- --- --- --- ARSE 415 broad.mit.edu 37 X 2876456 2876456 + Missense_Mutation SNP A A G TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chrX:2876456A>G ENST00000545496.1 - 4 410 c.119T>C c.(118-120)cTg>cCg p.L40P ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'UTR NM_001282628.1 NP_001269557.1 P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 15 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CATCGCTGGCAGCCAGCTCCT 0.517 4 31 --- --- --- --- TFDP3 51270 broad.mit.edu 37 X 132351872 132351872 + Missense_Mutation SNP G G A TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chrX:132351872G>A ENST00000310125.4 - 1 504 c.416C>T c.(415-417)gCc>gTc p.A139V NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 139 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) TCTGAACTTGGCGACCAGCTC 0.552 4 47 --- --- --- --- RBMX 27316 broad.mit.edu 37 X 135961213 135961213 + Missense_Mutation SNP G G T TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chrX:135961213G>T ENST00000562646.1 - 3 333 c.179C>A c.(178-180)gCa>gAa p.A60E RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 60 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CTTAGCGTCTGCTGGGCTTTC 0.383 5 100 --- --- --- --- SSMEM1 136263 broad.mit.edu 37 7 129856199 129856221 + Frame_Shift_Del DEL ATGGTTGGCGCACCATTCCCGAC ATGGTTGGCGCACCATTCCCGAC - rs140752649 byFrequency TCGA-HC-8216-01A-11D-A29Q-08 TCGA-HC-8216-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf 436a93af-a810-4d2e-aaea-b63735c080c4 g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC ENST00000297819.3 + 3 675_697 c.624_646delATGGTTGGCGCACCATTCCCGAC c.(622-648)gaatggttggcgcaccattcccgacagfs p.WLAHHSRQ209fs NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 p.R215R(1) GAACCAACGAATGGTTGGCGCACCATTCCCGACAGAAGCCTTC 0.426 7 208 --- --- --- ---