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 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 3 24 0.115264 0.116934 1 1 0 HIST1H3G 8355 broad.mit.edu 37 6 26271485 26271485 + Missense_Mutation SNP C C A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr6:26271485C>A ENST00000305910.3 - 1 127 c.128G>T c.(127-129)cGt>cTt p.R43L NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 43 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GGTGCCGGGACGGTAGCGATG 0.637000 6 106 0.0215528 0.0221867 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141607757 141607757 + Missense_Mutation SNP T T A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr2:141607757T>A ENST00000389484.3 - 29 5824 c.4853A>T c.(4852-4854)gAa>gTa p.E1618V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1618 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTATAAACGTTCCTCAGATGC 0.363000 TSP Lung(27;0.18) 7 65 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54420671 54420671 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr5:54420671C>T ENST00000296733.1 - 9 1349 c.1175G>A c.(1174-1176)gGc>gAc p.G392D CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.G392D|CDC20B_ENST00000322374.6_Missense_Mutation_p.G392D NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 392 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) CAGCGGTTGGCCCTGTGCACT 0.537000 4 84 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121206355 121206355 + Missense_Mutation SNP A A G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr3:121206355A>G ENST00000264233.5 - 16 5551 c.5423T>C c.(5422-5424)tTa>tCa p.L1808S NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1808 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATCCTGTGATAACTGAAGTGA 0.388000 DNA polymerases (catalytic subunits) 8 106 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274427 238274427 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr2:238274427G>A ENST00000295550.4 - 12 6204 c.5752C>T c.(5752-5754)Cgc>Tgc p.R1918C COL6A3_ENST00000472056.1_Missense_Mutation_p.R1311C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1712C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1712C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1717C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1718C NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1918 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGCTGGCTGCGCATGTTCCGG 0.617000 6 112 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 76 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33308014 33308014 + Silent SNP T T C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr11:33308014T>C ENST00000303296.4 + 2 359 c.54T>C c.(52-54)agT>agC p.S18S HIPK3_ENST00000525975.1_Silent_p.S18S|HIPK3_ENST00000379016.3_Silent_p.S18S|HIPK3_ENST00000456517.1_Silent_p.S18S NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 18 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 CTCAGTCAAGTGCCTTTTGTA 0.373000 3 36 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115759947 115759947 + RNA SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr9:115759947C>T ENST00000427548.1 - 0 1866 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCTCTGATGTCGGATTAGTGA 0.408000 19 49 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458702 45458702 + RNA SNP G G T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:45458702G>T ENST00000548424.1 + 0 448 CAGATTCATCGCTAATTTAAA 0.438000 11 23 4.68919e-08 5.1288e-08 1 1 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 178 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13724865 13724865 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:13724865G>A ENST00000279593.3 - 10 2253 c.2044C>T c.(2044-2046)Cgc>Tgc p.R682C NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 682 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCCAAAGCGGAAAGGGGGT 0.488000 4 36 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159092350 159092350 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr4:159092350G>A ENST00000296530.8 - 2 799 c.178C>T c.(178-180)Ctc>Ttc p.L60F FAM198B_ENST00000592057.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.L60F|FAM198B_ENST00000393807.5_Missense_Mutation_p.L60F|FAM198B_ENST00000589306.1_Intron NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 60 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 CCATGCTGGAGAGAGGCCCTC 0.662000 6 101 0 0 1 0 0 RAB13 5872 broad.mit.edu 37 1 153958656 153958656 + Silent SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr1:153958656C>T ENST00000368575.3 - 1 172 c.57G>A c.(55-57)gtG>gtA p.V19V RAB13_ENST00000462680.1_5'UTR NM_002870.2 NP_002861.1 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 19 cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1) 11 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGTCTTGCCCACCCCCGAGT 0.627000 8 26 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185939492 185939492 + Silent SNP A A T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr1:185939492A>T ENST00000271588.4 + 15 2467 c.2238A>T c.(2236-2238)acA>acT p.T746T HMCN1_ENST00000367492.2_Silent_p.T746T|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 746 Ig-like C2-type 4. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGCCCTCAACATTCCTCATTA 0.383000 7 177 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58979777 58979777 + Silent SNP T T G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr11:58979777T>G ENST00000361050.3 - 1 647 c.562A>C c.(562-564)Agg>Cgg p.R188R NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 188 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GTGGCCATCCTCGTCTGGTTG 0.527000 8 105 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20444317 20444317 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr7:20444317G>A ENST00000222573.3 + 11 2438 c.1754G>A c.(1753-1755)tGc>tAc p.C585Y ITGB8_ENST00000537992.1_Missense_Mutation_p.C450Y NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 585 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CGATGCCAGTGCCCTTCAGCA 0.562000 5 47 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56711419 56711419 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:56711419C>T ENST00000425394.2 - 26 3959 c.3583G>A c.(3583-3585)Gtc>Atc p.V1195I PAN2_ENST00000257931.5_Missense_Mutation_p.V1194I|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.V1195I|PAN2_ENST00000440411.3_Missense_Mutation_p.V1191I NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1195 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGGAGAAGACAGCTGCATCT 0.463000 5 49 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6312713 6312713 + Missense_Mutation SNP C C G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr8:6312713C>G ENST00000344683.5 + 9 1951 c.1875C>G c.(1873-1875)gaC>gaG p.D625E NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 625 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ACTCATGTGACGGCTTTAAGG 0.348000 8 98 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14412372 14412372 + Missense_Mutation SNP G G T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr8:14412372G>T ENST00000382080.1 - 2 818 c.103C>A c.(103-105)Caa>Aaa p.Q35K SGCZ_ENST00000421524.2_Missense_Mutation_p.Q22K NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 22 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GGGTAAAGTTGTGCATTCTCA 0.388000 7 185 0.307466 0.307466 1 1 0 MYL6B 140465 broad.mit.edu 37 12 56549344 56549344 + Missense_Mutation SNP G G C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:56549344G>C ENST00000553066.1 + 5 910 c.488G>C c.(487-489)gGa>gCa p.G163A MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.G163A|MYL6B_ENST00000552568.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.G163A P14649 MYL6B_HUMAN myosin, light chain 6B, alkali, smooth muscle and non-muscle 163 EF-hand 2. muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(4) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) AAAGTCATGGGAGCAGAGCTC 0.567000 9 161 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296254 39296254 + Silent SNP C C G rs72483263 by1000genomes TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr17:39296254C>G ENST00000345847.4 - 1 485 c.486G>C c.(484-486)ccG>ccC p.P162P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 158 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ggcagcagcacgggcggcagc 0.662000 3 18 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64909076 64909076 + Missense_Mutation SNP G G T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr14:64909076G>T ENST00000555709.1 + 21 2479 c.2092G>T c.(2092-2094)Gtt>Ttt p.V698F MTHFD1_ENST00000216605.7_Missense_Mutation_p.V754F|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Missense_Mutation_p.V754F NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 698 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGTGGTGCTTGTTGCCACTGT 0.537000 4 89 0.00024832 0.000267422 1 1 0 ZNF519 162655 broad.mit.edu 37 18 14105529 14105529 + Missense_Mutation SNP T T C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr18:14105529T>C ENST00000590202.1 - 3 1162 c.1010A>G c.(1009-1011)cAa>cGa p.Q337R ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TCTCTGATGTTGAGTAAGGTA 0.428000 10 132 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181784 57181784 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr4:57181784C>T ENST00000504228.1 + 6 2221 c.2116C>T c.(2116-2118)Cgc>Tgc p.R706C KIAA1211_ENST00000264229.6_Missense_Mutation_p.R706C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R699C Q6ZU35 K1211_HUMAN KIAA1211 706 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GTGTGATTCCCGCGGGAACCA 0.582000 20 146 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75985564 75985564 + Silent SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr15:75985564G>A ENST00000308508.5 - 2 191 c.99C>T c.(97-99)ttC>ttT p.F33F NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 33 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGTTCTCACCGAAGAAGGAAG 0.617000 7 24 0 0 1 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1889767 1889767 + Missense_Mutation SNP A A G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:1889767A>G ENST00000357103.4 + 5 865 c.614A>G c.(613-615)tAc>tGc p.Y205C NM_024551.2 NP_078827.2 Q86V24 ADR2_HUMAN adiponectin receptor 2 205 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity endometrium(1)|large_intestine(3)|lung(7)|stomach(1) 12 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) CACACAGTCTACTGCCACTCA 0.448000 15 158 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74490581 74490581 + Missense_Mutation SNP T T C rs144493700 byFrequency TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr16:74490581T>C ENST00000422840.2 - 25 3337 c.3338A>G c.(3337-3339)aAt>aGt p.N1113S GLG1_ENST00000447066.2_Missense_Mutation_p.N1102S|GLG1_ENST00000205061.5_Missense_Mutation_p.N1113S NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1113 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AATCCGGTCATTGAGGCGCTT 0.418000 23 112 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48525010 48525010 + Silent SNP T T G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr20:48525010T>G ENST00000422556.1 - 2 367 c.18A>C c.(16-18)tcA>tcC p.S6S SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Silent_p.S6S NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 6 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TAGTATCCATTGAACTGGGCT 0.522000 5 51 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112089 57112089 + Silent SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:57112089G>A ENST00000454682.1 - 3 3506 c.3225C>T c.(3223-3225)tcC>tcT p.S1075S NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCCCCTTGAGGGATGGGGTAG 0.667000 T BCL6 NHL 5 115 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88956732 88956732 + Missense_Mutation SNP A A C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr7:88956732A>C ENST00000333190.4 + 3 933 c.324A>C c.(322-324)caA>caC p.Q108H NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 108 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGAAAAAACAAGAAAAAGCAC 0.373000 HNSCC(36;0.09) 4 70 0 0 1 0 0 DMPK 1760 broad.mit.edu 37 19 46281067 46281067 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr19:46281067C>T ENST00000600757.1 - 6 1457 c.770G>A c.(769-771)gGc>gAc p.G257D DMPK_ENST00000354227.5_Missense_Mutation_p.G247D|DMPK_ENST00000343373.4_Missense_Mutation_p.G257D|DMPK_ENST00000447742.2_Missense_Mutation_p.G247D|DMPK_ENST00000458663.2_Missense_Mutation_p.G247D|DMPK_ENST00000291270.4_Missense_Mutation_p.G247D Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 257 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) AGGCCCACCGCCCACAGCCTG 0.652000 8 161 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7967015 7967015 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:7967015C>T ENST00000543909.1 - 16 2219 c.1460G>A c.(1459-1461)cGg>cAg p.R487Q SLC2A14_ENST00000396589.2_Missense_Mutation_p.R487Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R464Q|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R502Q|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R128Q|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R464Q Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 487 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TTCAAAGGCCCGTGTGATATC 0.517000 4 159 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49416433 49416433 + Nonsense_Mutation SNP G G C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:49416433G>C ENST00000301067.7 - 51 16277 c.16278C>G c.(16276-16278)taC>taG p.Y5426* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGGTGCCAATGTACTCGATAA 0.552000 55 239 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131544974 131544974 + Silent SNP A A G rs148453847 by1000genomes TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr5:131544974A>G ENST00000401867.1 - 8 1328 c.760T>C c.(760-762)Ttg>Ctg p.L254L P4HA2_ENST00000379104.2_Silent_p.L254L|P4HA2_ENST00000379086.1_Silent_p.L254L|P4HA2_ENST00000379100.2_Silent_p.L254L|P4HA2_ENST00000360568.3_Silent_p.L254L|P4HA2_ENST00000166534.4_Silent_p.L254L O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 254 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) TCTTCCTCCAATAACTGCTCA 0.468000 7 231 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589607 17589607 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr22:17589607G>A ENST00000319363.6 + 13 1631 c.1498G>A c.(1498-1500)Gta>Ata p.V500I NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 500 SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CGGCACCTACGTAGTCTGCTA 0.642000 4 28 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207818584 207818584 + Silent SNP G G T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr1:207818584G>T ENST00000508064.2 + 1 66 c.6G>T c.(4-6)gcG>gcT p.A2A NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 2 cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CGCTCATGGCGCCTCCCGTCC 0.637000 5 88 0.000602214 0.000638712 1 1 0 LILRB1 0 broad.mit.edu 37 19 55143586 55143586 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr19:55143586G>A ENST00000396331.1 + 6 916 c.559G>A c.(559-561)Gtg>Atg p.V187M LILRB1_ENST00000396332.4_Missense_Mutation_p.V187M|LILRB1_ENST00000448689.1_Missense_Mutation_p.V187M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V187M|LILRB1_ENST00000324602.7_Missense_Mutation_p.V187M|LILRB1_ENST00000396317.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V187M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V223M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V187M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V187M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V187M NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 187 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CGTGGGCCCCGTGAGCCCGAG 0.587000 HNSCC(37;0.09) 4 201 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 131 0 0 1 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25160959 25160959 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr10:25160959C>T ENST00000320152.6 - 4 401 c.373G>A c.(373-375)Gga>Aga p.G125R PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 125 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity p.G125R(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 TCATCGCCTCCGATTATCTGC 0.453000 11 314 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39586310 39586310 + Silent SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr13:39586310C>T ENST00000352251.3 - 12 3455 c.2622G>A c.(2620-2622)ccG>ccA p.P874P PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Silent_p.P852P NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 874 p.P874P(1) CAGGGATACCCGGGAGGGACA 0.453000 18 278 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1065403 1065403 + Missense_Mutation SNP A A G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr5:1065403A>G ENST00000264930.5 - 18 2475 c.2432T>C c.(2431-2433)tTt>tCt p.F811S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 811 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCTACCCACAAAGTTCTTCCA 0.642000 5 94 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89084114 89084114 + RNA SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr2:89084114G>A ENST00000393525.3 + 0 576 TTGCTTTTCAGTGTCTTCTCA 0.313000 7 62 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38511002 38511002 + Silent SNP A A C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr21:38511002A>C ENST00000399017.2 + 19 4394 c.1647A>C c.(1645-1647)atA>atC p.I549I TTC3_ENST00000355666.1_Silent_p.I549I|TTC3_ENST00000354749.2_Silent_p.I549I|TTC3_ENST00000540756.1_Silent_p.I239I|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 549 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TCCTTGGAATAGGACAGCCTG 0.323000 5 120 0 0 1 0 0 FDXACB1 91893 broad.mit.edu 37 11 111745901 111745901 + Silent SNP A A G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr11:111745901A>G ENST00000260257.4 - 5 1667 c.1620T>C c.(1618-1620)gtT>gtC p.V540V FDXACB1_ENST00000542429.1_Silent_p.V391V|ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron NM_138378.2 NP_612387.1 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain containing 1 540 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3) 19 TCCAAAAACTAACATCATGCA 0.383000 3 47 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26505785 26505785 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr10:26505785G>A ENST00000376261.3 + 1 550 c.47G>A c.(46-48)gGc>gAc p.G16D GAD2_ENST00000259271.3_Missense_Mutation_p.G16D NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 16 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TCGGAAGATGGCTCTGGGGAT 0.637000 7 115 0 0 1 0 0 GNRHR 0 broad.mit.edu 37 4 68619905 68619905 + Missense_Mutation SNP G G A rs150422225 TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr4:68619905G>A ENST00000226413.4 - 1 173 c.149C>T c.(148-150)gCg>gTg p.A50V RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|RP11-453E17.1_ENST00000502758.1_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 50 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) ATTAAAGGTCGCAGAGAGCAG 0.443000 28 106 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48218517 48218517 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr16:48218517G>A ENST00000394747.1 - 22 3441 c.3092C>T c.(3091-3093)gCg>gTg p.A1031V ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1031V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1031V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1031V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1031 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTTATTCTGCGCATCAGTCAG 0.507000 6 106 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26455034 26455034 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr10:26455034G>A ENST00000265944.5 + 27 3204 c.3038G>A c.(3037-3039)cGc>cAc p.R1013H MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1013 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.R1013H(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GAGGAGCCCCGCATGAGCCCT 0.448000 5 273 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50041125 50041125 + Silent SNP G G T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:50041125G>T ENST00000335154.5 - 24 3038 c.2805C>A c.(2803-2805)cgC>cgA p.R935R FMNL3_ENST00000550488.1_Silent_p.R934R|FMNL3_ENST00000352151.5_Silent_p.R884R|FMNL3_ENST00000293590.5_Silent_p.R935R NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 935 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 CCTGCTTCTTGCGGGCTTCAT 0.597000 8 114 0.00448238 0.00468308 1 1 0 ZAN 7455 broad.mit.edu 37 7 100363150 100363150 + RNA SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr7:100363150C>T ENST00000542585.1 + 0 4591 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGTGTGGGTGCCTCCACCCTG 0.637000 4 16 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 5 231 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51372228 51372228 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr14:51372228G>A ENST00000216392.7 - 20 2758 c.2426C>T c.(2425-2427)tCg>tTg p.S809L PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 809 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) GAATTTCCCCGAGGCAGCTAT 0.423000 13 108 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100390958 100390958 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr6:100390958G>A ENST00000281806.2 - 4 768 c.454C>T c.(454-456)Cgg>Tgg p.R152W MCHR2_ENST00000445970.1_Missense_Mutation_p.R152W|MCHR2_ENST00000369212.1_Missense_Mutation_p.R152W NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 152 R -> Q (no changes in receptor binding or functional signaling). integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AAATTGATCCGGATGGTCTTG 0.473000 9 133 0 0 1 0 0 PLSCR5 389158 broad.mit.edu 37 3 146311885 146311885 + Missense_Mutation SNP T T C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr3:146311885T>C ENST00000443512.1 - 4 1278 c.275A>G c.(274-276)aAc>aGc p.N92S PLSCR5_ENST00000492200.1_Missense_Mutation_p.N92S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N80S NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 92 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TCCCAAGCTGTTTTTAATCTC 0.348000 25 117 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070783 141070783 + RNA SNP G G C rs28412015 TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr9:141070783G>C ENST00000503395.1 + 0 1558 AGGGTTTCCAGCTGACCCACT 0.592000 6 22 0 0 1 0 0 CCDC144NL 339184 broad.mit.edu 37 17 20799125 20799125 + Missense_Mutation SNP T T C TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr17:20799125T>C ENST00000327925.5 - 1 328 c.209A>G c.(208-210)gAc>gGc p.D70G RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like 70 large_intestine(3)|lung(3)|skin(1) 7 CTGGAGCTGGTCTAAGGCGCC 0.642000 7 191 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592968 38592968 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr3:38592968C>T ENST00000413689.1 - 28 5088 c.4895G>A c.(4894-4896)cGc>cAc p.R1632H SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1632H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1632 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCTGAGGATGCGGCCTATTCG 0.592000 4 159 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121192246 121192246 + Missense_Mutation SNP A A T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr3:121192246A>T ENST00000264233.5 - 21 6622 c.6494T>A c.(6493-6495)aTt>aAt p.I2165N NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2165 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TCCATTGTCAATCCCTCTTCT 0.443000 DNA polymerases (catalytic subunits) 20 231 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23524544 23524544 + Missense_Mutation SNP G G A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr14:23524544G>A ENST00000397359.3 - 3 479 c.220C>T c.(220-222)Cgg>Tgg p.R74W CDH24_ENST00000554034.1_Missense_Mutation_p.R74W|CDH24_ENST00000267383.5_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 74 Cadherin 1. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCCTCTCCCCGGTCAACATCC 0.557000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 75 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677621 100677621 + Missense_Mutation SNP C C A TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr7:100677621C>A ENST00000306151.4 + 3 2988 c.2924C>A c.(2923-2925)aCc>aAc p.T975N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 975 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCATACCAACCTCGACTCCT 0.502000 29 972 1.55469e-16 1.72744e-16 1 1 0 AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 2 4 --- --- --- --- TMEM184C 55751 broad.mit.edu 37 4 148555575 148555575 + Frame_Shift_Del DEL T T - TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr4:148555575delT ENST00000296582.3 + 10 1881 c.1307delT c.(1306-1308)ggfs p.V436fs TMEM184C_ENST00000508208.1_Intron NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 436 integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 GATAAATCCGTGGATTCCTGA 0.398 9 76 --- --- --- --- MEST 4232 broad.mit.edu 37 7 130143791 130143791 + Frame_Shift_Del DEL C C - TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr7:130143791delC ENST00000223215.4 + 11 1065 c.844delC c.(844-846)cafs p.P282fs MEST_ENST00000378576.4_Frame_Shift_Del_p.P239fs|MEST_ENST00000416162.2_Frame_Shift_Del_p.P239fs|MEST_ENST00000437945.1_Intron|MEST_ENST00000393187.1_Frame_Shift_Del_p.P273fs|MEST_ENST00000341441.4_Frame_Shift_Del_p.P273fs NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 282 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) TATCTATGGGCCATTGGATCC 0.408 11 80 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 4 8 --- --- --- --- ESRRAP2 0 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 2 4 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25434470 25434470 + RNA DEL C C - TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr15:25434470delC ENST00000424208.1 + 0 906 SNHG14_ENST00000414175.1_RNA NR_003305.1 TCAGGCTCTTCCTGGCGCCCT 0.612 19 126 --- --- --- --- VN1R2 317701 broad.mit.edu 37 19 53762385 53762385 + Frame_Shift_Del DEL C C - TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr19:53762385delC ENST00000341702.3 + 1 841 c.757delC c.(757-759)ttfs p.L253fs NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 253 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TTCTGCCCCACTTAGTGATGA 0.433 10 159 --- --- --- --- TMPRSS2 0 broad.mit.edu 37 21 42843790 42843791 + Frame_Shift_Ins INS - - G TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr21:42843790_42843791insG ENST00000398585.3 - 10 1188_1189 c.1128_1129insC c.(1126-1131)tcagacfs p.D377fs TMPRSS2_ENST00000458356.1_Frame_Shift_Ins_p.D340fs|TMPRSS2_ENST00000332149.5_Frame_Shift_Ins_p.D340fs NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 340 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TTCTTGGTCTTGGAGTCATAAT 0.460 T """ERG, ETV1, ETV4, ETV5""" prostate 14 130 --- --- --- --- XBP1 7494 broad.mit.edu 37 22 29196498 29196499 + In_Frame_Ins INS - - GCC TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1106f74-3476-405d-93ad-b718d7f393bc ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54 g.chr22:29196498_29196499insGCC ENST00000216037.6 - 1 86_87 c.14_15insGGC c.(13-15)ggc>gGGCgc p.5_6insR XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR NM_001079539.1|NM_005080.3 NP_001073007.1|NP_005071.2 P17861 XBP1_HUMAN X-box binding protein 1 5 immune response nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|large_intestine(1)|lung(1) 5 TCGGCGCGGCTGCCACCACCAC 0.762 4 7 --- --- --- ---