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 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_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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 0.507 64 87 --- --- --- --- 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_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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 0.493 5 250 --- --- --- --- 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 0.687 5 80 --- --- --- --- 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 0.368 15 27 --- --- --- --- 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_ENST00000420660.1_Missense_Mutation_p.T381M|AAMP_ENST00000444053.1_Missense_Mutation_p.T401M 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 0.592 4 98 --- --- --- --- 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 0.323 2 4 --- --- --- --- 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 0.373 22 30 --- --- --- --- 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 0.642 16 20 --- --- --- --- 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 0.423 15 40 --- --- --- --- PCDHB1 29930 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 0.483 27 47 --- --- --- --- 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 0.413 60 90 --- --- --- --- 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 0.318 25 44 --- --- --- --- 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 0.642 57 85 --- --- --- --- 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 0.318 29 44 --- --- --- --- 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 0.507 18 37 --- --- --- --- 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 0.507 61 104 --- --- --- --- CTAGE5 4253 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_ENST00000341502.5_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K AACTTAATAAACAGAAAGTAA 0.323 28 32 --- --- --- --- 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_ENST00000360392.4_Silent_p.L272L|TRIM9_ENST00000338969.5_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 0.567 20 31 --- --- --- --- 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 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 0.373 34 51 --- --- --- --- 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 0.289 6 7 --- --- --- --- 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 0.552 54 19 --- --- --- --- 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)actfs p.T167fs SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_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)aatgatcacgttgga>aga p.18_22NDHVG>R PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron 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 --- --- --- ---