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 LCE1F 353137 broad.mit.edu 37 1 152748962 152748962 + Missense_Mutation SNP C C G rs116630978 by1000genomes TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr1:152748962C>G ENST00000334371.2 + 1 115 c.115C>G c.(115-117)Cct>Gct p.P39A NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 39 Pro-rich. keratinization p.P39A(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) taagtgccctccTGTCTCTTC 0.677 14 84 --- --- --- --- LCE1F 353137 broad.mit.edu 37 1 152748963 152748963 + Missense_Mutation SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr1:152748963C>T ENST00000334371.2 + 1 116 c.116C>T c.(115-117)cCt>cTt p.P39L NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 39 Pro-rich. keratinization p.P39L(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) aagtgccctccTGTCTCTTCC 0.672 13 84 --- --- --- --- ASPM 259266 broad.mit.edu 37 1 197073334 197073334 + Missense_Mutation SNP T T C TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr1:197073334T>C ENST00000367409.4 - 18 5303 c.5047A>G c.(5047-5049)Ata>Gta p.I1683V ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1683 IQ 5. mitosis cytoplasm|nucleus calmodulin binding p.I1683V(1)|p.I1683fs*7(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TGCAATTTTATTGTAGCATTT 0.303 4 125 --- --- --- --- CCDC142 84865 broad.mit.edu 37 2 74708964 74708964 + Missense_Mutation SNP A A T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr2:74708964A>T ENST00000393965.3 - 1 1397 c.1001T>A c.(1000-1002)cTg>cAg p.L334Q CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 334 p.L334Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 TGCCTGACTCAGCTGTTGCGC 0.612 8 111 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100199303 100199303 + Missense_Mutation SNP G G C TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr2:100199303G>C ENST00000409236.2 - 15 2862 c.2750C>G c.(2749-2751)cCt>cGt p.P917R AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R|AFF3_ENST00000317233.4_Missense_Mutation_p.P917R P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.P942R(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GTCGGCCTTAGGCTTTTTGCT 0.478 8 158 --- --- --- --- CPS1 1373 broad.mit.edu 37 2 211454904 211454904 + Silent SNP G G A TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr2:211454904G>A ENST00000233072.5 + 8 982 c.786G>A c.(784-786)gcG>gcA p.A262A CPS1_ENST00000430249.2_Silent_p.A268A NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 262 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.A262A(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTTGATCGCGGGAGGACCGG 0.483 24 534 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71179726 71179726 + Nonsense_Mutation SNP C C A TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr3:71179726C>A ENST00000491238.1 - 1 262 c.109G>T c.(109-111)Gaa>Taa p.E37* FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000468577.1_Intron NM_001244815.1 NP_001231744.1 Q9H334 FOXP1_HUMAN forkhead box P1 383 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TAGATGGGTTCTGGCTGTTTC 0.468 T PAX5 ALL 4 77 --- --- --- --- RAPGEF2 9693 broad.mit.edu 37 4 160260299 160260299 + Missense_Mutation SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr4:160260299C>T ENST00000264431.4 + 13 2263 c.1844C>T c.(1843-1845)gCt>gTt p.A615V NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 615 Ras-associating. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity p.A615V(1)|p.A603V(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GTTTTTAAGGCTGATCAGCAA 0.423 6 355 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152639275 152639275 + Missense_Mutation SNP T T C TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr6:152639275T>C ENST00000367255.5 - 86 17114 c.16513A>G c.(16513-16515)Act>Gct p.T5505A SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5505 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.T5505A(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGAAGTTCAGTCAGTTTTCCT 0.448 HNSCC(10;0.0054) 9 188 --- --- --- --- RIPK2 8767 broad.mit.edu 37 8 90801576 90801576 + Missense_Mutation SNP A A G TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr8:90801576A>G ENST00000220751.4 + 10 1465 c.1151A>G c.(1150-1152)aAg>aGg p.K384R RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 384 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity p.K384R(2) kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TATTTTATGAAGCTGCATCAC 0.398 6 259 --- --- --- --- SPATA31A3 727830 broad.mit.edu 37 9 40702847 40702847 + Silent SNP C C A TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr9:40702847C>A ENST00000356699.5 + 4 533 c.504C>A c.(502-504)acC>acA p.T168T SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 p.T168T(2) TGGCCTCCACCCCATCACCAG 0.597 20 445 --- --- --- --- LPAR1 1902 broad.mit.edu 37 9 113703743 113703743 + Missense_Mutation SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr9:113703743C>T ENST00000374431.3 - 4 1134 c.751G>A c.(751-753)Gat>Aat p.D251N LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N|LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 251 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane p.D251N(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 ATCATGGTATCCCGATTCCGC 0.443 24 98 --- --- --- --- OR9G4 283189 broad.mit.edu 37 11 56511197 56511197 + Missense_Mutation SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr11:56511197C>T ENST00000302957.3 - 1 90 c.91G>A c.(91-93)Ggt>Agt p.G31S NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G31S(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GCTGAGAAACCCAACAAGATG 0.428 4 107 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134054637 134054637 + Silent SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr11:134054637C>T ENST00000534548.2 - 19 2410 c.2346G>A c.(2344-2346)aaG>aaA p.K782K RP11-700F16.3_ENST00000531710.1_RNA NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 782 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.K782K(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TCAGCTTACACTTGACAGCAT 0.448 19 96 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76374992 76374992 + Missense_Mutation SNP A A G TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr13:76374992A>G ENST00000357063.3 + 8 2051 c.791A>G c.(790-792)gAt>gGt p.D264G RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G|LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000341547.4_Missense_Mutation_p.D264G|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR Q8WWI1 LMO7_HUMAN LIM domain 7 264 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding p.D264G(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TGCTCCTCTGATATCACGTTG 0.458 14 328 --- --- --- --- CPNE6 9362 broad.mit.edu 37 14 24543288 24543288 + Missense_Mutation SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr14:24543288C>T ENST00000397016.2 + 5 688 c.377C>T c.(376-378)cCa>cTa p.P126L CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L|CPNE6_ENST00000560092.1_3'UTR NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 126 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GTCACTAAGCCATTATTGCTG 0.532 18 90 --- --- --- --- ALDOC 230 broad.mit.edu 37 17 26901519 26901519 + Missense_Mutation SNP G G T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr17:26901519G>T ENST00000226253.4 - 6 1092 c.617C>A c.(616-618)aCa>aAa p.T206K ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 206 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity p.T206K(1) breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) CACCTTCTCTGTAACATACTG 0.517 12 314 --- --- --- --- ZNF181 339318 broad.mit.edu 37 19 35232875 35232875 + Nonsense_Mutation SNP C C G TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr19:35232875C>G ENST00000392232.3 + 6 1889 c.1721C>G c.(1720-1722)tCa>tGa p.S574* ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S529*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S530* Q2M3W8 ZN181_HUMAN zinc finger protein 181 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S466*(1) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGCAAAGGCTCAAATCTTACT 0.388 5 201 --- --- --- --- PRODH2 58510 broad.mit.edu 37 19 36297714 36297714 + Missense_Mutation SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr19:36297714C>T ENST00000301175.3 - 7 942 c.925G>A c.(925-927)Gtg>Atg p.V309M NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 309 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity p.V309M(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGAGCCGCACGTGCTGGGCC 0.682 4 17 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31021261 31021261 + Silent SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr20:31021261C>T ENST00000375687.4 + 12 1684 c.1260C>T c.(1258-1260)gcC>gcT p.A420A ASXL1_ENST00000306058.5_Silent_p.A415A NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 420 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.A420A(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GAACCAGAGCCAGAAGGAATC 0.527 """F, N, Mis""" """MDS, CMML""" 5 169 --- --- --- --- PHF20 51230 broad.mit.edu 37 20 34458923 34458923 + Silent SNP A A G TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr20:34458923A>G ENST00000374012.3 + 8 1098 c.969A>G c.(967-969)ttA>ttG p.L323L PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding p.L323L(1) breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) ACAAAGACTTATCGAGGAGAC 0.423 7 149 --- --- --- --- EYA2 2139 broad.mit.edu 37 20 45797830 45797830 + Missense_Mutation SNP A A C rs143610627 TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr20:45797830A>C ENST00000327619.5 + 11 1396 c.1022A>C c.(1021-1023)aAt>aCt p.N341T EYA2_ENST00000357410.3_Missense_Mutation_p.N341T|EYA2_ENST00000317304.6_Missense_Mutation_p.N311T NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 341 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity p.N341T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TCAGATGACAATGGCCAAGAT 0.428 43 196 --- --- --- --- MT-ND5 4540 broad.mit.edu 37 M 13326 13326 + Silent SNP T T C TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chrM:13326T>C ENST00000361567.2 + 1 990 c.990T>C c.(988-990)tgT>tgC p.C330C P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 330 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTGCACATCTGTACCCACGCC 0.423 2 8 --- --- --- --- MT-ND5 4540 broad.mit.edu 37 M 13680 13680 + Silent SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chrM:13680C>T ENST00000361567.2 + 1 1344 c.1344C>T c.(1342-1344)ccC>ccT p.P448P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 448 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) GAAAATAACCCCACCCTACTA 0.488 5 6 --- --- --- --- MT-CYB 4519 broad.mit.edu 37 M 14872 14872 + Silent SNP C C T TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chrM:14872C>T ENST00000361789.2 + 1 126 c.126C>T c.(124-126)atC>atT p.I42I mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GCCTGCCTGATCCTCCAAATC 0.488 3 13 --- --- --- --- FASTKD2 22868 broad.mit.edu 37 2 207636634 207636634 + Frame_Shift_Del DEL A A - TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr2:207636634delA ENST00000236980.6 + 5 1355 c.1007delA c.(1006-1008)gaafs p.E336fs FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 336 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) GCCTTGAGGGAATTAGACAGA 0.318 38 164 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113275870 113275870 + Frame_Shift_Del DEL A A - TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr8:113275870delA ENST00000297405.5 - 61 10104 c.9860delT c.(9859-9861)ttafs p.L3287fs CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3287 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATACTTACGTAAGCACTGCGG 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 58 --- --- --- --- NINL 22981 broad.mit.edu 37 20 25436392 25436392 + Frame_Shift_Del DEL C C - TCGA-EJ-5497-01A-02D-1576-08 TCGA-EJ-5497-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 924c20dd-38c1-48a7-83c6-fd1bdffda680 f6c01a65-6505-4d90-a07f-9c7285b4cf58 g.chr20:25436392delC ENST00000278886.6 - 23 3947 c.3874delG c.(3874-3876)gaafs p.E1293fs NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1293 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 ACCCGCTCTTCTGTGGCTTTC 0.527 11 428 --- --- --- ---