Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut LAYN 143903 broad.mit.edu 37 11 111431122 111431122 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr11:111431122C>T ENST00000436913.2 + 6 1030 c.629C>T c.(628-630)cCa>cTa p.P210L LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.P355L|LAYN_ENST00000375615.3_Missense_Mutation_p.P363L NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 363 cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) GAGTTCTCCCCAGACCAAATG 0.418000 13 75 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292812 102292812 + RNA SNP G G T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr15:102292812G>T ENST00000561463.1 + 0 858 CTGCACTCGCGTGGGAACGAG 0.607000 3 25 0.00909568 0.00909568 1 1 0 UBE2J1 51465 broad.mit.edu 37 6 90039674 90039674 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:90039674G>A ENST00000435041.2 - 8 959 c.681C>T c.(679-681)taC>taT p.Y227Y NM_016021.2 NP_057105.2 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 227 endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1) 18 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) TCTGGAGTCCGTACTAGGAAA 0.428000 16 55 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187663 152187663 + Nonsense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr1:152187663G>A ENST00000368801.2 - 3 6517 c.6442C>T c.(6442-6444)Cga>Tga p.R2148* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2148 keratinization calcium ion binding|protein binding p.R2148*(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCGTGTCGTTCACCCCTA 0.587000 30 2110 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95858796 95858796 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr13:95858796C>T ENST00000376887.4 - 8 1265 c.1151G>A c.(1150-1152)cGa>cAa p.R384Q ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q|ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 384 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity p.R384Q(2) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CTGGATTCTTCGGATGCTGAC 0.478000 19 50 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15501350 15501350 + Nonsense_Mutation SNP G G T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:15501350G>T ENST00000341776.2 + 8 2402 c.2158G>T c.(2158-2160)Gag>Tag p.E720* JARID2_ENST00000541660.1_Nonsense_Mutation_p.E682*|JARID2_ENST00000397311.3_Nonsense_Mutation_p.E548* NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 720 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CCGGCGGCTGGAGAAGGAGGT 0.642000 4 124 0.00024832 0.000251587 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11840726 11840726 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr17:11840726G>A ENST00000262442.3 + 66 12615 c.12547G>A c.(12547-12549)Gca>Aca p.A4183T DNAH9_ENST00000454412.2_Missense_Mutation_p.A4107T|DNAH9_ENST00000396001.2_Missense_Mutation_p.A495T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4183 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCACCCGAACGCAGAGATTGG 0.577000 19 67 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21978705 21978705 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr8:21978705C>T ENST00000381418.4 - 10 3720 c.2240G>A c.(2239-2241)cGt>cAt p.R747H HR_ENST00000312841.8_Missense_Mutation_p.R747H NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 747 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCGGCCAGCACGGTCCTCTGC 0.632000 13 126 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53783386 53783386 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr3:53783386A>G ENST00000288139.3 + 28 3584 c.3466A>G c.(3466-3468)Atc>Gtc p.I1156V CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1136V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1136V|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I43V NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1136 Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CATCATCTACATCATCATTGT 0.428000 24 45 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 5 119 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703777 4703777 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr11:4703777G>A ENST00000396950.3 - 2 404 c.165C>T c.(163-165)caC>caT p.H55H NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) ACATCGGAGCGTGCAGGCTGC 0.517000 10 62 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 30029663 30029663 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr3:30029663G>A ENST00000434693.2 + 13 1825 c.1125G>A c.(1123-1125)ggG>ggA p.G375G RBMS3_ENST00000452462.1_Silent_p.G360G|RBMS3_ENST00000383767.2_Silent_p.G376G|RBMS3_ENST00000396583.3_Silent_p.G373G|RBMS3_ENST00000383766.2_Silent_p.G358G|RBMS3_ENST00000456853.1_Silent_p.G373G|RBMS3_ENST00000273139.9_Silent_p.G360G|RBMS3_ENST00000473799.1_3'UTR NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 376 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) CTATGCAAGGGACCTACATTC 0.403000 6 27 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102965586 102965586 + Missense_Mutation SNP T T C TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:102965586T>C ENST00000233954.1 + 10 1436 c.1165T>C c.(1165-1167)Tcc>Ccc p.S389P NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 389 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GAACTACAAATCCAGTACAGA 0.388000 36 96 0 0 1 0 0 FAM26D 221301 broad.mit.edu 37 6 116879357 116879357 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:116879357A>G ENST00000368596.3 + 2 972 c.928A>G c.(928-930)Att>Gtt p.I310V FAM26D_ENST00000405399.1_Missense_Mutation_p.I167V|FAM26D_ENST00000368597.2_Missense_Mutation_p.I124V|FAM26D_ENST00000416171.2_Missense_Mutation_p.I166V Q5JW98 FA26D_HUMAN family with sequence similarity 26, member D 310 integral to membrane endometrium(1)|lung(5) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) ATCAAGAGGTATTGAATTAAA 0.398000 10 70 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237073 140237073 + Silent SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr5:140237073C>T ENST00000307360.5 + 1 1440 c.1440C>T c.(1438-1440)gaC>gaT p.D480D PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D480D|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.D480D(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGTGGGACGCGGACGCGC 0.657000 31 118 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28963224 28963224 + Silent SNP T T G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:28963224T>G ENST00000377179.3 - 7 2067 c.1555A>C c.(1555-1557)Aga>Cga p.R519R ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 GTGTGGATTCTCTGATGGATG 0.468000 9 69 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31475003 31475003 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:31475003G>A ENST00000252229.6 + 4 897 c.818G>A c.(817-819)cGc>cAc p.R273H MICB_ENST00000538442.1_Missense_Mutation_p.R241H|MICB_ENST00000399150.3_Missense_Mutation_p.R230H NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 273 Ig-like C1-type. antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 ACCAGGATTCGCCAAGGAGAG 0.607000 12 29 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003756 50003756 + Silent SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr11:50003756C>T ENST00000335238.4 - 1 315 c.282G>A c.(280-282)ggG>ggA p.G94G NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GAGCCATACACCCATTAAAGG 0.433000 15 94 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 25 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215668 140215668 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr5:140215668C>T ENST00000525929.1 + 1 1700 c.1700C>T c.(1699-1701)gCg>gTg p.A567V PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTGCTGGCGCCTCGGGTG 0.692000 38 121 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47144880 47144880 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr3:47144880G>A ENST00000409792.3 - 7 4915 c.4873C>T c.(4873-4875)Cgt>Tgt p.R1625C NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1625 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.R1122C(1)|p.R1625C(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTCATGAAACGAGAGCAATTT 0.348000 """N, F, S, Mis""" clear cell renal carcinoma 12 99 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26393183 26393183 + Silent SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:26393183C>T ENST00000356709.4 + 8 1671 c.1560C>T c.(1558-1560)caC>caT p.H520H BTN2A2_ENST00000482536.1_Silent_p.H310H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.H520H|BTN2A2_ENST00000352867.2_Silent_p.H404H NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 520 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGGGGACCCACCAGAGCCTAT 0.567000 12 40 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89888740 89888740 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:89888740G>A ENST00000435811.1 - 9 1592 c.1138C>T c.(1138-1140)Ctg>Ttg p.L380L GABRR1_ENST00000369451.3_Silent_p.L310L|GABRR1_ENST00000454853.2_Silent_p.L397L NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 397 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TTGCCGTCCAGCATCGCAGTG 0.562000 13 45 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233750036 233750036 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:233750036G>A ENST00000264051.3 - 10 1669 c.1391C>T c.(1390-1392)aCg>aTg p.T464M NGEF_ENST00000539537.1_Missense_Mutation_p.T187M|NGEF_ENST00000373552.4_Missense_Mutation_p.T372M NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 464 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CATCTGTTCCGTGCGGCTCAT 0.597000 30 88 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 325674 325674 + Silent SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr9:325674C>T ENST00000432829.2 + 8 943 c.627C>T c.(625-627)ttC>ttT p.F209F DOCK8_ENST00000453981.1_Silent_p.F277F|DOCK8_ENST00000469391.1_Silent_p.F209F NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 277 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATGGTAGGTTCGAGATTGAAA 0.358000 20 108 0 0 1 0 0 TMOD2 29767 broad.mit.edu 37 15 52074950 52074950 + Silent SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr15:52074950A>G ENST00000249700.4 + 7 878 c.657A>G c.(655-657)gcA>gcG p.A219A TMOD2_ENST00000539962.2_Silent_p.A175A|TMOD2_ENST00000435126.2_Intron NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 219 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) GGGAATTTGCAAAGGCTCTGG 0.463000 33 103 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124929186 124929186 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr9:124929186G>A ENST00000536616.1 + 2 225 c.187G>A c.(187-189)Gcc>Acc p.A63T MORN5_ENST00000373764.3_Missense_Mutation_p.A63T|MORN5_ENST00000486801.1_3'UTR Q5VZ52 MORN5_HUMAN MORN repeat containing 5 63 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 AAACGGATTGGCCATAAAGGT 0.557000 8 16 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233245422 233245422 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:233245422C>T ENST00000392027.2 + 8 1224 c.955C>T c.(955-957)Cgc>Tgc p.R319C AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 319 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGCTGCCCTGCGCCTGCTGAG 0.632000 14 85 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 3 56 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95082849 95082849 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr10:95082849G>A ENST00000371501.4 - 48 5564 c.5442C>T c.(5440-5442)gaC>gaT p.D1814D MYOF_ENST00000359263.4_Silent_p.D1814D|MYOF_ENST00000371502.4_Silent_p.D1804D|MYOF_ENST00000358334.5_Silent_p.D1801D Q9NZM1 MYOF_HUMAN myoferlin 1814 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGACGTAGATGTCACTCATTT 0.458000 45 124 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324353 3324353 + Silent SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr17:3324353C>T ENST00000291231.1 + 1 492 c.492C>T c.(490-492)aaC>aaT p.N164N NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 CCTTCACCAACGCACTGACCC 0.587000 13 132 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30704051 30704051 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr8:30704051C>T ENST00000256246.2 - 1 2557 c.2483G>A c.(2482-2484)gGt>gAt p.G828D NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 828 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGCATTTTCACCAAAAGGCTG 0.358000 28 77 0 0 1 0 0 SERINC2 347735 broad.mit.edu 37 1 31897680 31897680 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr1:31897680G>A ENST00000373710.1 + 4 652 c.379G>A c.(379-381)Gtg>Atg p.V127M SERINC2_ENST00000536384.1_Missense_Mutation_p.V122M|SERINC2_ENST00000536859.1_Missense_Mutation_p.V122M|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.V118M NM_001199038.1 NP_001185967.1 Q96SA4 SERC2_HUMAN serine incorporator 2 118 integral to membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 12 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CATGCTCTGCGTGAGCAGCAG 0.652000 6 6 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113481174 113481174 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr13:113481174A>G ENST00000487903.1 + 12 1278 c.1190A>G c.(1189-1191)aAc>aGc p.N397S ATP11A_ENST00000375645.3_Missense_Mutation_p.N397S|ATP11A_ENST00000283558.8_Missense_Mutation_p.N397S|ATP11A_ENST00000375630.2_Missense_Mutation_p.N397S P98196 AT11A_HUMAN ATPase, class VI, type 11A 397 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CCTCTGGTGAACACGTCGGAC 0.527000 13 42 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201726 71201726 + Missense_Mutation SNP G G A rs139939232 TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr4:71201726G>A ENST00000273936.4 + 1 1029 c.970G>A c.(970-972)Gtt>Att p.V324I NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 324 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATATGACTTCGTTGTCCCTGC 0.413000 18 53 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131466566 131466566 + Missense_Mutation SNP C C T rs144030317 TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr12:131466566C>T ENST00000261654.5 + 5 1007 c.448C>T c.(448-450)Cgg>Tgg p.R150W GPR133_ENST00000535015.1_Missense_Mutation_p.R182W NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 150 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R150W(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCTGTATACGCGGGACAATTC 0.587000 17 57 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1081707 1081707 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr11:1081707G>A ENST00000441003.2 + 13 1662 c.1635G>A c.(1633-1635)ctG>ctA p.L545L MUC2_ENST00000359061.5_Silent_p.L545L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 545 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCAGCGGGCTGGTGGAGGCCA 0.632000 11 20 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169484642 169484642 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr5:169484642G>A ENST00000256935.8 + 44 4519 c.4439G>A c.(4438-4440)cGc>cAc p.R1480H DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R972H|DOCK2_ENST00000540750.1_Missense_Mutation_p.R541H NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1480 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGATCCTGCGCTGGTTTGAG 0.607000 11 26 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136508598 136508598 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr9:136508598G>A ENST00000393056.2 + 4 820 c.808G>A c.(808-810)Gcc>Acc p.A270T NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 270 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CTTCCAGTGCGCCCCCGAGAT 0.662000 16 46 0 0 1 0 0 UGT1A5 0 broad.mit.edu 37 2 234621899 234621899 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:234621899G>A ENST00000373414.3 + 1 262 c.262G>A c.(262-264)Gaa>Aaa p.E88K UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GACCCAGGACGAATTTGATCG 0.428000 4 143 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33407399 33407399 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr7:33407399G>A ENST00000242067.6 + 17 2235 c.1714G>A c.(1714-1716)Gat>Aat p.D572N BBS9_ENST00000355070.2_Missense_Mutation_p.D567N|BBS9_ENST00000396127.2_Missense_Mutation_p.D537N|BBS9_ENST00000354265.4_Missense_Mutation_p.D537N|BBS9_ENST00000350941.3_Missense_Mutation_p.D532N NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 572 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TCAGTCAGATGATGATCAGGT 0.373000 Bardet-Biedl syndrome 22 124 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698258 17698258 + Silent SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:17698258C>T ENST00000399080.2 - 1 1448 c.1425G>A c.(1423-1425)acG>acA p.T475T NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 475 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) GCCAAACAGTCGTTATTAAAG 0.343000 14 50 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72338854 72338854 + Silent SNP T T C TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr15:72338854T>C ENST00000356056.5 - 2 523 c.51A>G c.(49-51)acA>acG p.T17T MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Silent_p.T17T|MYO9A_ENST00000444904.1_Silent_p.T17T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.T17T NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 17 Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATATCCGTAATGTATGTTCAT 0.408000 20 129 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37041349 37041349 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:37041349G>A ENST00000379242.3 + 16 2229 c.1927G>A c.(1927-1929)Gtt>Att p.V643I VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000389975.3_Missense_Mutation_p.V628I NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 628 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TGCGATAGGCGTTGCCTGGGC 0.512000 13 30 0 0 1 0 0 CTD-2324F15.2 0 broad.mit.edu 37 5 6337339 6337339 + RNA SNP C C A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr5:6337339C>A ENST00000507444.1 - 0 66 NR_028351.1 AGCAGGGATACTTTTTACAGC 0.542000 17 67 3.8784e-16 4.20616e-16 1 1 0 SCAND3 114821 broad.mit.edu 37 6 28543532 28543532 + Missense_Mutation SNP C C G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr6:28543532C>G ENST00000452236.2 - 3 1567 c.950G>C c.(949-951)aGc>aCc p.S317T NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 317 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATGTCCAATGCTGAGATGTGT 0.378000 53 170 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47119680 47119680 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr17:47119680G>A ENST00000290341.3 + 9 1352 c.1018G>A c.(1018-1020)Gag>Aag p.E340K IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E201K NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 340 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTGCAGGGCCGAGCAGGAAAT 0.512000 20 69 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 705313 705313 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr16:705313G>A ENST00000549091.1 + 15 1655 c.1563G>A c.(1561-1563)gcG>gcA p.A521A LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.A521A NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 521 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GCAGGATGGCGTCGTGCGGGC 0.697000 9 26 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57373887 57373887 + Nonsense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr11:57373887G>A ENST00000403558.1 + 5 1391 c.1025G>A c.(1024-1026)tGg>tAg p.W342* SERPING1_ENST00000340687.6_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.W247*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.W304* NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 299 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CTAGCCAAGTGGAAGACAACA 0.443000 4 101 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr7:55221822C>T ENST00000275493.2 + 7 1043 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.A289D(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 10 46 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35791251 35791251 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr19:35791251G>A ENST00000361922.4 + 6 1064 c.914G>A c.(913-915)tGc>tAc p.C305Y MAG_ENST00000537831.2_Missense_Mutation_p.C280Y|MAG_ENST00000392213.3_Missense_Mutation_p.C305Y NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 305 Ig-like C2-type 2. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GTCTATGCCTGCCTGGCCGAG 0.677000 11 23 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5155075 5155075 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr12:5155075G>A ENST00000252321.3 + 1 1991 c.1762G>A c.(1762-1764)Gtc>Atc p.V588I NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 588 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GAAGTGTAACGTCAAGGCCAA 0.592000 10 22 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408807 40408807 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr19:40408807G>A ENST00000221347.6 - 8 4039 c.4032C>T c.(4030-4032)aaC>aaT p.N1344N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1344 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGATCTGGCCGTTGGCCAGCA 0.587000 13 30 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69093101 69093101 + Nonsense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:69093101G>A ENST00000295379.1 - 2 1095 c.937C>T c.(937-939)Cga>Tga p.R313* NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 313 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CTTCTGATTCGGGCAGTGGAG 0.527000 11 41 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 207009618 207009618 + Silent SNP G G T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:207009618G>T ENST00000233190.5 - 9 1136 c.870C>A c.(868-870)acC>acA p.T290T NDUFS1_ENST00000440274.1_Silent_p.T254T|NDUFS1_ENST00000432169.1_Silent_p.T179T|NDUFS1_ENST00000423725.1_Silent_p.T233T|NDUFS1_ENST00000457011.1_Silent_p.T174T|NDUFS1_ENST00000455934.2_Silent_p.T304T|NDUFS1_ENST00000449699.1_Silent_p.T290T NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 290 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) GCATATACCTGGTTTTATCAG 0.299000 16 57 1.99824e-07 2.137e-07 1 1 0 FGF16 8823 broad.mit.edu 37 X 76711876 76711876 + Silent SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chrX:76711876G>A ENST00000439435.1 + 2 213 c.213G>A c.(211-213)acG>acA p.T71T O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 ACAGTATTACGTGGCCCTGAA 0.463000 20 19 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33638052 33638052 + Missense_Mutation SNP C C T TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr13:33638052C>T ENST00000380099.3 + 5 2776 c.2768C>T c.(2767-2769)cCg>cTg p.P923L KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 923 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CGCACAGCTCCGAGGTTTGGC 0.443000 44 136 0 0 1 0 0 LIN52 91750 broad.mit.edu 37 14 74665655 74665655 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr14:74665655A>G ENST00000555028.1 + 6 493 c.326A>G c.(325-327)aAt>aGt p.N109S NM_001024674.2 NP_001019845.1 Q52LA3 LIN52_HUMAN lin-52 homolog (C. elegans) 109 breast(1)|endometrium(2)|lung(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.00471) AAATTCCTCAATATTCTAGAG 0.458000 16 22 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73148881 73148881 + Missense_Mutation SNP G G A TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr4:73148881G>A ENST00000286657.4 - 22 3626 c.3590C>T c.(3589-3591)cCg>cTg p.P1197L NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1197 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGATCTTGTCGGACGTCTGTT 0.448000 4 141 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118484571 118484571 + Missense_Mutation SNP A A G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr5:118484571A>G ENST00000311085.8 + 18 3129 c.3049A>G c.(3049-3051)Att>Gtt p.I1017V DMXL1_ENST00000539542.1_Missense_Mutation_p.I1017V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1017 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAATGGAAAAATTGATCTTGC 0.388000 22 95 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73490392 73490392 + Frame_Shift_Del DEL C C - TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr2:73490392delC ENST00000521871.1 - 9 2535 c.2120delG c.(2119-2121)gcfs p.G707fs FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G707fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G768fs Q8TF61 FBX41_HUMAN F-box protein 41 707 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 GCAGCCTGCGCCCAGGGCCCA 0.612 2 4 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr3:195595228_195595229insG ENST00000333602.6 - 12 2512_2513 c.1895_1896insC c.(1894-1896)cccfs p.P632fs TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 10 44 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 6 4 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 12 310 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48941638 48941641 + Frame_Shift_Del DEL TCTT TCTT - TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr13:48941638_48941641delTCTT ENST00000267163.4 + 10 1086_1089 c.948_951delTCTT c.(946-951)aafs p.NL316fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 316 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(7) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTTGAAAATCTTTCTAAACGAT 0.299 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 12 76 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18863422 18863424 + In_Frame_Del DEL AAG AAG - TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr16:18863422_18863424delAAG ENST00000446231.2 - 33 5429_5431 c.5017_5019delCTT c.(5017-5019)del p.L1673del SMG1_ENST00000389467.3_In_Frame_Del_p.L1673del Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1673 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CAGCCTGTCCAAGAATACCATAT 0.443 18 47 --- --- --- --- AFMID 125061 broad.mit.edu 37 17 76198801 76198801 + Frame_Shift_Del DEL T T - TCGA-E1-A7YM-01A-11D-A34A-08 TCGA-E1-A7YM-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 195a493a-389b-4701-87a7-9d26cfbc7ac2 8573d87d-205f-4551-9e76-c3208c0950bf g.chr17:76198801delT ENST00000409257.5 + 4 331 c.277delT c.(277-279)tcfs p.F94fs AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.F94fs|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Frame_Shift_Del_p.F59fs NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 94 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) TTTCTTCCTGTTCTTTCACGG 0.617 2 4 --- --- --- ---