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 MUC16 94025 broad.mit.edu 37 19 9087741 9087741 + Silent SNP G G A rs146223906 by1000genomes TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr19:9087741G>A ENST00000397910.4 - 1 4277 c.4074C>T c.(4072-4074)tcC>tcT p.S1358S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1358 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S1358S(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGGGTGGCGGACTCTGTCT 0.502000 19 26 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65620244 65620244 + Silent SNP C C A rs144634991 byFrequency TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr11:65620244C>A ENST00000308342.6 + 11 1481 c.1056C>A c.(1054-1056)tcC>tcA p.S352S NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 352 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) AGCGCCTCTCCGACTCCGCCA 0.701000 8 14 1.06961e-07 1.14601e-07 1 1 0 EVC2 132884 broad.mit.edu 37 4 5642366 5642366 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr4:5642366G>A ENST00000310917.2 - 10 1836 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W EVC2_ENST00000344408.5_Missense_Mutation_p.R449W|EVC2_ENST00000344938.1_Missense_Mutation_p.R449W NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 449 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 ACCATCTTCCGATCGTACTCC 0.443000 7 146 0 0 1 0 0 SYCE2 256126 broad.mit.edu 37 19 13029100 13029100 + Missense_Mutation SNP C C T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr19:13029100C>T ENST00000293695.7 - 2 85 c.67G>A c.(67-69)Gag>Aag p.E23K NM_001105578.1 NP_001099048.1 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 23 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 TCCTTGCTCTCCCCCAAGGGC 0.607000 10 35 0 0 1 0 0 AAMP 14 broad.mit.edu 37 2 219129773 219129773 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr2:219129773G>A ENST00000248450.4 - 10 1369 c.1199C>T c.(1198-1200)aCg>aTg p.T400M AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M Q13685 AAMP_HUMAN angio-associated, migratory cell protein 400 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATCTCAGCCGTGTGGCCCCG 0.592000 4 98 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(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) GCGCGCGATGGGGGCGTGCCG 0.687000 4 107 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8153043 8153043 + Missense_Mutation SNP C C T rs138232748 by1000genomes TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr19:8153043C>T ENST00000600128.1 - 52 6811 c.6397G>A c.(6397-6399)Ggc>Agc p.G2133S FBN3_ENST00000270509.2_Missense_Mutation_p.G2133S|FBN3_ENST00000601739.1_Missense_Mutation_p.G2133S Q75N90 FBN3_HUMAN fibrillin 3 2133 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.G2133S(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CAGGGGTGGCCGACAGAGCAC 0.612000 3 48 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238737875 238737875 + Silent SNP T T C TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr2:238737875T>C ENST00000316997.4 + 13 2751 c.2619T>C c.(2617-2619)gcT>gcC p.A873A RBM44_ENST00000409864.1_Silent_p.A873A NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 872 RRM. nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) CATCTCTTGCTTTTACAAAAA 0.323000 2 4 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115767000 115767000 + Missense_Mutation SNP G G C TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr4:115767000G>C ENST00000264363.2 - 10 2772 c.2094C>G c.(2092-2094)gaC>gaG p.D698E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 698 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGTATGCCCTGTCTGAGGGGT 0.423000 15 40 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64940198 64940198 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr11:64940198G>A ENST00000377185.2 + 6 642 c.560G>A c.(559-561)cGg>cAg p.R187Q NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 187 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 ACTCGGGACCGGCGCCCCCAC 0.667000 17 21 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192862 34192862 + Missense_Mutation SNP C C A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr7:34192862C>A ENST00000297161.2 + 16 2409 c.2035C>A c.(2035-2037)Cca>Aca p.P679T BMPER_ENST00000426693.1_Missense_Mutation_p.P679T NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 679 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GTGCATCAAGCCAGTCCTTTG 0.507000 18 37 1.67942e-08 1.84326e-08 1 1 0 UBLCP1 134510 broad.mit.edu 37 5 158696066 158696066 + Missense_Mutation SNP T T G TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr5:158696066T>G ENST00000296786.6 + 2 469 c.143T>G c.(142-144)cTc>cGc p.L48R NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 48 Ubiquitin-like. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTACTTGGACTCAAAGTTAAA 0.318000 25 44 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160147 104160147 + Missense_Mutation SNP G G T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr1:104160147G>T ENST00000414303.2 + 1 149 c.85G>T c.(85-87)Gtt>Ttt p.V29F NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 29 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) GACATCTATTGTTCATCTGTT 0.428000 5 293 0.00307968 0.00307968 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22942458 22942458 + Missense_Mutation SNP A A T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr19:22942458A>T ENST00000397104.3 - 4 315 c.316T>A c.(316-318)Ttt>Att p.F106I ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTGGCCAAAAGTCTTGTGTA 0.289000 6 7 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152323407 152323407 + Missense_Mutation SNP C C A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr1:152323407C>A ENST00000388718.5 - 3 6927 c.6855G>T c.(6853-6855)caG>caT p.Q2285H FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2285 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGATCCTGGCTGTCTTTGTT 0.507000 64 87 1.44317e-28 1.80396e-28 1 1 0 PTN 5764 broad.mit.edu 37 7 136936041 136936041 + Silent SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr7:136936041G>A ENST00000348225.2 - 4 814 c.387C>T c.(385-387)gcC>gcT p.A129A PTN_ENST00000393083.2_Silent_p.A129A NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin 129 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 TCTGGCATTCGGCATTGTGCA 0.507000 61 104 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127327355 127327355 + Missense_Mutation SNP A A G TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr3:127327355A>G ENST00000265056.7 + 7 1476 c.1232A>G c.(1231-1233)gAg>gGg p.E411G NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 411 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CCAGGAGACGAGATAGTAAGT 0.642000 16 20 0 0 1 0 0 LCE2A 353139 broad.mit.edu 37 1 152671573 152671573 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr1:152671573G>A ENST00000368779.1 + 2 247 c.196G>A c.(196-198)Ggc>Agc p.G66S NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 66 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGGGTGGCGGCTGCTGCCT 0.687000 5 80 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138518009 138518009 + Missense_Mutation SNP C C T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr9:138518009C>T ENST00000371763.1 - 4 416 c.163G>A c.(163-165)Gtc>Atc p.V55I NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 55 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TCCCATAGGACAGGAGCGAGC 0.527000 14 27 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327428 152327428 + Missense_Mutation SNP G G T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr1:152327428G>T ENST00000388718.5 - 3 2906 c.2834C>A c.(2833-2835)aCt>aAt p.T945N FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 945 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAATCCAAAAGTCTGTCCTGA 0.493000 5 250 0.00116845 0.001195 1 1 0 PCDHB1 0 broad.mit.edu 37 5 140432268 140432268 + Missense_Mutation SNP G G T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr5:140432268G>T ENST00000306549.3 + 1 1290 c.1213G>T c.(1213-1215)Gtc>Ttc p.V405F NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 405 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTACTCACTGGTCACTGACAG 0.483000 27 47 1.88708e-17 2.1774e-17 1 1 0 KIFC1 3833 broad.mit.edu 37 6 33374066 33374066 + Missense_Mutation SNP C C A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr6:33374066C>A ENST00000428849.2 + 8 2080 c.1630C>A c.(1630-1632)Cta>Ata p.L544I NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 544 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 TGTATTCCAGCTACAGATTTC 0.642000 57 85 4.96213e-28 6.03503e-28 1 1 0 CYSLTR2 57105 broad.mit.edu 37 13 49281496 49281496 + Silent SNP C C T rs141963167 byFrequency TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr13:49281496C>T ENST00000282018.3 + 1 546 c.543C>T c.(541-543)aaC>aaT p.N181N NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 181 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) CTGAGCAGAACGGCAGTGTCA 0.483000 32 16 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217750 130217750 + Missense_Mutation SNP T T A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chrX:130217750T>A ENST00000276211.5 + 4 707 c.362T>A c.(361-363)cTg>cAg p.L121Q ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 121 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GAAGAGGTCCTGGTGAACGAG 0.552000 54 19 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71851082 71851082 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr9:71851082G>A ENST00000377245.4 + 13 2127 c.1919G>A c.(1918-1920)gGc>gAc p.G640D TJP2_ENST00000453658.2_Missense_Mutation_p.G617D|TJP2_ENST00000348208.4_Missense_Mutation_p.G640D|TJP2_ENST00000265384.7_Missense_Mutation_p.G640D|TJP2_ENST00000535702.1_Missense_Mutation_p.G644D|TJP2_ENST00000539225.1_Missense_Mutation_p.G671D NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 640 SH3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CTGTATGACGGCAAGCTGGGC 0.502000 3 44 0 0 1 0 0 CIR1 9541 broad.mit.edu 37 2 175213457 175213457 + Missense_Mutation SNP T T G TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr2:175213457T>G ENST00000342016.3 - 10 1213 c.1121A>C c.(1120-1122)aAg>aCg p.K374T CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 374 Arg/Ser-rich (RS domain). mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 GCTCCCCTCCTTTCTTTCAGA 0.527000 23 11 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51560842 51560842 + Silent SNP T T A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr14:51560842T>A ENST00000298355.3 - 1 1937 c.816A>T c.(814-816)ctA>ctT p.L272L TRIM9_ENST00000338969.5_Silent_p.L272L|TRIM9_ENST00000360392.4_Silent_p.L272L NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 272 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TCACCTTATGTAGTTTCCACA 0.567000 20 31 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35227197 35227197 + Silent SNP G G A rs146404415 TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr1:35227197G>A ENST00000339480.1 + 2 712 c.342G>A c.(340-342)ccG>ccA p.P114P RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 114 cell communication connexon complex|integral to membrane gap junction channel activity p.P114P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CCAATGCCCCGTCCCTGTACG 0.617000 10 30 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28434998 28434998 + Missense_Mutation SNP T T C TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr17:28434998T>C ENST00000394835.3 + 23 4660 c.4468T>C c.(4468-4470)Tat>Cat p.Y1490H EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1490 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GACTGACAATTATATGTATGC 0.373000 34 51 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15736275 15736275 + Nonsense_Mutation SNP T T A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr3:15736275T>A ENST00000399451.2 - 17 2009 c.1642A>T c.(1642-1644)Aga>Tga p.R548* ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581* NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 548 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 ATTGTTGCTCTATTATCTGAA 0.373000 22 30 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728085 20728085 + Silent SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr19:20728085G>A ENST00000427401.4 - 4 1018 c.924C>T c.(922-924)agC>agT p.S308S NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 308 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GTTTCTCTCCGCTATGAATTA 0.408000 15 28 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37284597 37284597 + Silent SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr2:37284597G>A ENST00000233099.5 - 15 2181 c.2086C>T c.(2086-2088)Ctg>Ttg p.L696L HEATR5B_ENST00000354531.2_Silent_p.L696L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 696 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TCCGCTACCAGTTCTCTAAGA 0.368000 15 27 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86616312 86616312 + Silent SNP G G T TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr9:86616312G>T ENST00000325875.3 + 3 743 c.411G>T c.(409-411)ctG>ctT p.L137L NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 137 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TGTTGATGCTGCAGCTAACTG 0.388000 24 30 2.89027e-11 3.25155e-11 1 1 0 SPTLC1 10558 broad.mit.edu 37 9 94843196 94843196 + Missense_Mutation SNP C C T rs143232538 byFrequency TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr9:94843196C>T ENST00000262554.2 - 4 315 c.310G>A c.(310-312)Gcc>Acc p.A104T SPTLC1_ENST00000337841.4_Missense_Mutation_p.A104T|SPTLC1_ENST00000482632.1_5'UTR NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 104 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTAAATGAGGCGAAGTTTATA 0.383000 14 32 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39769118 39769118 + Silent SNP A A G TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr14:39769118A>G ENST00000553728.1 + 13 2541 c.2328A>G c.(2326-2328)aaA>aaG p.K776K CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000553352.1_Silent_p.K212K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000341502.5_Silent_p.K241K AACTTAATAAACAGAAAGTAA 0.323000 28 32 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183888412 183888412 + Missense_Mutation SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr3:183888412G>A ENST00000313143.3 + 15 2268 c.2020G>A c.(2020-2022)Gcg>Acg p.A674T DVL3_ENST00000431765.1_Missense_Mutation_p.A657T|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 674 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCCGCCGCCCGCGGCCATGGG 0.721000 7 10 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804461 27804461 + Silent SNP C C A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr2:27804461C>A ENST00000408964.2 + 1 5073 c.5022C>A c.(5020-5022)tcC>tcA p.S1674S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1674 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GCAGTCCCTCCCAGAGGAGCC 0.572000 64 92 7.05995e-25 8.36047e-25 1 1 0 TBC1D32 221322 broad.mit.edu 37 6 121642938 121642938 + Missense_Mutation SNP T T A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr6:121642938T>A ENST00000275159.6 - 2 157 c.158A>T c.(157-159)tAt>tTt p.Y53F TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F TBC1 domain family, member 32 CACAAATTCATAGCTGAAACA 0.318000 29 44 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1248291 1248291 + Silent SNP G G A rs138107513 byFrequency TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr1:1248291G>A ENST00000540437.1 - 14 1643 c.1188C>T c.(1186-1188)agC>agT p.S396S CPSF3L_ENST00000421495.2_Silent_p.S132S|CPSF3L_ENST00000435064.1_Silent_p.S390S|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Silent_p.S368S|CPSF3L_ENST00000411962.1_Silent_p.S292S|CPSF3L_ENST00000545578.1_Silent_p.S361S|CPSF3L_ENST00000419704.1_Silent_p.S289S NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 390 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) CCGCGTGTGCGCTGAATGACA 0.637000 10 16 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147505314 147505314 + Missense_Mutation SNP T T C TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr5:147505314T>C ENST00000359874.3 + 30 2931 c.2858T>C c.(2857-2859)aTa>aCa p.I953T SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 923 Kazal-like 14. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAACTATATAAGGAACAAT 0.413000 60 90 0 0 1 0 0 SPATA31C1 0 broad.mit.edu 37 9 90535986 90535986 + RNA SNP G G A TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr9:90535986G>A ENST00000602681.1 + 0 1890 GCCCTGCGTCGCAGAATAAAG 0.517000 7 174 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166165198 166165198 + Frame_Shift_Del DEL A A - TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr2:166165198delA ENST00000375437.2 + 5 789 c.499delA c.(499-501)ctfs p.T167fs SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 167 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGGAATTTATACTTTTGAATC 0.313 24 51 --- --- --- --- PUS7L 83448 broad.mit.edu 37 12 44148985 44148996 + In_Frame_Del DEL CAACGTGATCAT CAACGTGATCAT - rs145711853 byFrequency TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr12:44148985_44148996delCAACGTGATCAT ENST00000416848.2 - 2 541_552 c.53_64delATGATCACGTTG c.(52-66)aga>a p.NDHVG18del PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_In_Frame_Del_p.NDHVG18del|PUS7L_ENST00000551923.1_In_Frame_Del_p.NDHVG18del|PUS7L_ENST00000344862.5_In_Frame_Del_p.NDHVG18del NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 18 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CCATGAAATCCAACGTGATCATTAAAGAAACA 0.330 10 17 --- --- --- --- RP11-26F2.1 0 broad.mit.edu 37 15 23131706 23131706 + RNA DEL A A - TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr15:23131706delA ENST00000560053.1 - 0 129 GATATTCTCCAATGTCATTTT 0.259 4 3 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29337651 29337652 + RNA INS - - CAGAG rs140530121 by1000genomes TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chr16:29337651_29337652insCAGAG ENST00000398878.3 + 0 724 CCCCGTTCACACCTGTTTCCTC 0.599 3 6 --- --- --- --- TXLNG2P 0 broad.mit.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-YL-A8SA-01A-21D-A377-08 TCGA-YL-A8SA-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52f7bad1-8f6c-459c-8919-247d1e7189ea 7b1edb67-d4ef-43db-b35d-99054028f6bc g.chrY:21758039delA ENST00000253320.4 + 0 3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TACTTCTTGGAAAAAAAAAAA 0.378 2 4 --- --- --- ---