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 ANKAR 150709 broad.mit.edu 37 2 190541595 190541595 + Missense_Mutation SNP G G T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr2:190541595G>T ENST00000520309.1 + 2 467 c.379G>T c.(379-381)Gat>Tat p.D127Y ANKAR_ENST00000431575.2_Missense_Mutation_p.D56Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D127Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D127Y|ANKAR_ENST00000461516.1_Intron NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 127 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AGCTAATTATGATCAGAGTTC 0.368000 50 29 1.67211e-32 1.96877e-32 1 1 0 ACY1 95 broad.mit.edu 37 3 52019884 52019884 + Missense_Mutation SNP A A C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr3:52019884A>C ENST00000458031.2 + 7 782 c.551A>C c.(550-552)gAc>gCc p.D184A ACY1_ENST00000476351.1_Missense_Mutation_p.D59A|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D195A|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000476854.1_Missense_Mutation_p.D94A|ACY1_ENST00000494103.1_Missense_Mutation_p.D94A|ACY1_ENST00000404366.2_Missense_Mutation_p.D94A Q03154 ACY1_HUMAN aminoacylase 1 94 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TGGAGTCACGACCCCTTTGAG 0.557000 5 15 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 845557 845557 + Silent SNP C C A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr4:845557C>A ENST00000314167.4 - 25 3599 c.3489G>T c.(3487-3489)ggG>ggT p.G1163G GAK_ENST00000511163.1_Silent_p.G1084G|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1163 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GTGCGCGGACCCCCCGCTCCT 0.597000 20 28 2.89027e-11 3.1491e-11 1 1 0 PTER 9317 broad.mit.edu 37 10 16553115 16553115 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr10:16553115C>T ENST00000378000.1 + 6 1156 c.910C>T c.(910-912)Cgg>Tgg p.R304W PTER_ENST00000423462.2_Missense_Mutation_p.R257W|PTER_ENST00000535784.2_Missense_Mutation_p.R304W|PTER_ENST00000298942.3_Missense_Mutation_p.R304W NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 304 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 TACGAAAACCCGGCTGATGAA 0.423000 22 20 0 0 1 0 0 FAM66D 0 broad.mit.edu 37 8 11986193 11986193 + RNA SNP T T C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr8:11986193T>C ENST00000434078.2 + 0 608 NR_027425.1 AGACACTTGATTTGAGATCTC 0.493000 13 25 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158597474 158597474 + Missense_Mutation SNP C C A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:158597474C>A ENST00000368148.3 - 40 5785 c.5605G>T c.(5605-5607)Gct>Tct p.A1869S SPTA1_ENST00000368147.3_Missense_Mutation_p.A1869S|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1869 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCATGGACAGCAAAGTCATTT 0.403000 33 92 2.66277e-13 2.99049e-13 1 1 0 RARB 5915 broad.mit.edu 37 3 25611284 25611284 + Missense_Mutation SNP A A T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr3:25611284A>T ENST00000330688.4 + 4 905 c.484A>T c.(484-486)Act>Tct p.T162S RARB_ENST00000458646.1_Missense_Mutation_p.T50S|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.T169S|RARB_ENST00000437042.2_Missense_Mutation_p.T50S NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 169 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AAAGAAGGAGACTTCGAAGCA 0.502000 22 13 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 373036 373036 + Silent SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr10:373036C>T ENST00000280886.6 - 31 3921 c.3834G>A c.(3832-3834)tcG>tcA p.S1278S NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1278 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCTTTGAGAACGACTGTGTGA 0.597000 3 29 0 0 1 0 0 PCDHB8 0 broad.mit.edu 37 5 140559154 140559154 + Missense_Mutation SNP C C G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr5:140559154C>G ENST00000239444.2 + 1 1784 c.1539C>G c.(1537-1539)caC>caG p.H513Q NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 513 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGGCCACCTGTTCGCCC 0.687000 24 82 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904183 144904183 + Silent SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chrX:144904183C>T ENST00000370490.1 + 1 4495 c.240C>T c.(238-240)aaC>aaT p.N80N SLITRK2_ENST00000447897.2_Silent_p.N80N|SLITRK2_ENST00000434188.2_Silent_p.N80N|SLITRK2_ENST00000428560.2_Silent_p.N80N|SLITRK2_ENST00000413937.2_Silent_p.N80N Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 80 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TGTATCCAAACGAATTTGTCA 0.458000 7 68 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433001 55433001 + Missense_Mutation SNP G G A rs137985207 byFrequency TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:55433001G>A ENST00000314259.3 + 1 388 c.359G>A c.(358-360)cGc>cAc p.R120H NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GCCTATGACCGCTACGTGGCC 0.552000 14 57 0 0 1 0 0 KMO 8564 broad.mit.edu 37 1 241723980 241723980 + Missense_Mutation SNP C C A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:241723980C>A ENST00000366559.4 + 6 688 c.377C>A c.(376-378)cCc>cAc p.P126H KMO_ENST00000366557.4_Missense_Mutation_p.P126H|KMO_ENST00000366558.3_Missense_Mutation_p.P126H|KMO_ENST00000484628.1_3'UTR NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 126 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GAGAAATACCCCAATGTGAAA 0.383000 14 39 8.60227e-14 9.81197e-14 1 1 0 DYRK4 8798 broad.mit.edu 37 12 4722817 4722817 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr12:4722817G>A ENST00000540757.2 + 13 1621 c.1461G>A c.(1459-1461)aaG>aaA p.K487K DYRK4_ENST00000010132.5_Silent_p.K487K|DYRK4_ENST00000545342.1_Silent_p.K124K|DYRK4_ENST00000543431.1_Silent_p.K486K NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 487 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ACGCTCCCAAGAAGTCAGAGG 0.537000 13 38 0 0 1 0 0 RP11-65J21.3 0 broad.mit.edu 37 16 14397851 14397851 + RNA SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr16:14397851C>T ENST00000570945.1 + 0 310 MIR193B_ENST00000384907.1_RNA GTTTTGAGGGCGAGATGAGTT 0.572000 5 170 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11070441 11070441 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr3:11070441G>A ENST00000287766.4 + 11 1520 c.1099G>A c.(1099-1101)Gca>Aca p.A367T SLC6A1_ENST00000536032.1_Missense_Mutation_p.A189T NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 367 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GGCGTTCCTGGCATACCCAGA 0.542000 3 34 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138617968 138617968 + Missense_Mutation SNP A A G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr6:138617968A>G ENST00000251691.4 + 21 3690 c.3524A>G c.(3523-3525)gAc>gGc p.D1175G NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1175 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCCACTCAAGACCGAAAAAGC 0.522000 4 89 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61068375 61068375 + Missense_Mutation SNP G G T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:61068375G>T ENST00000301764.7 - 26 3642 c.3245C>A c.(3244-3246)aCa>aAa p.T1082K DDB1_ENST00000451943.2_Missense_Mutation_p.T69K|DDB1_ENST00000450997.2_Missense_Mutation_p.T393K|DDB1_ENST00000538470.1_Missense_Mutation_p.T129K NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 1082 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GGCTGGTTCTGTCTTCCGCTC 0.517000 Nucleotide excision repair (NER) 34 18 4.11147e-13 4.54754e-13 1 1 0 TTN 7273 broad.mit.edu 37 2 179597209 179597209 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr2:179597209C>T ENST00000589042.1 - 56 16803 c.16579G>A c.(16579-16581)Gtc>Atc p.V5527I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V5210I|TTN_ENST00000342992.6_Missense_Mutation_p.V4283I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5210 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCCAGCGACATTGCTGACT 0.393000 15 20 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576500 158576500 + Missense_Mutation SNP C C A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:158576500C>A ENST00000361284.1 + 1 272 c.272C>A c.(271-273)gCt>gAt p.A91D NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGGGACCAGGCTATCTCCTAT 0.537000 41 110 2.47872e-24 2.87217e-24 1 1 0 DDX50 79009 broad.mit.edu 37 10 70673848 70673848 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr10:70673848C>T ENST00000373585.3 + 7 1084 c.977C>T c.(976-978)tCt>tTt p.S326F NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 326 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TTACTTTTTTCTGCAACTTGC 0.348000 6 26 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33583687 33583687 + Missense_Mutation SNP A A C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:33583687A>C ENST00000294517.6 + 11 1801 c.1214A>C c.(1213-1215)cAc>cCc p.H405P ADC_ENST00000373443.3_Missense_Mutation_p.H405P|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.H425P|ADC_ENST00000398167.1_Missense_Mutation_p.H425P NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 405 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CAGGCCTGCCACATCACCTAT 0.592000 25 17 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69253376 69253376 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chrX:69253376G>A ENST00000374552.4 + 7 1164 c.922G>A c.(922-924)Gaa>Aaa p.E308K EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 308 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 TAGTCAGGTAGAAGTGAGTAC 0.532000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 35 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49688434 49688434 + Missense_Mutation SNP G G T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr3:49688434G>T ENST00000296452.4 + 4 2022 c.1908G>T c.(1906-1908)aaG>aaT p.K636N NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 636 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTAAAGTAAAGAGTGGGGTGA 0.602000 6 46 0.217242 0.220259 1 1 0 SNX19 399979 broad.mit.edu 37 11 130781573 130781573 + Nonsense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:130781573G>A ENST00000265909.4 - 2 2337 c.1768C>T c.(1768-1770)Cag>Tag p.Q590* SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533214.1_Nonsense_Mutation_p.Q590*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q33*|SNX19_ENST00000533318.1_5'UTR NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 590 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) AGACGGGTCTGCAGATTCAAG 0.552000 29 30 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4832550 4832550 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:4832550G>A ENST00000378191.4 + 4 1509 c.1128G>A c.(1126-1128)acG>acA p.T376T AJAP1_ENST00000378190.3_Silent_p.T376T NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 376 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TGCACTCGACGACGGGGGAGT 0.587000 4 24 0 0 1 0 0 TFPT 29844 broad.mit.edu 37 19 54610362 54610362 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr19:54610362C>T ENST00000391759.1 - 6 1162 c.757G>A c.(757-759)Gac>Aac p.D253N NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.D244N|NDUFA3_ENST00000485876.1_3'UTR|TFPT_ENST00000391757.1_3'UTR NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 253 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) ATGCGTCAGTCAGAGGCTGGG 0.577000 T TCF3 pre-B ALL 45 28 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510354 169510354 + Missense_Mutation SNP A A G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:169510354A>G ENST00000367796.3 - 13 4190 c.3989T>C c.(3988-3990)cTc>cCc p.L1330P F5_ENST00000367797.3_Missense_Mutation_p.L1325P P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1325 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTATGGCTGAGGTCTGGAGA 0.512000 5 248 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724954 7724954 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:7724954G>A ENST00000303635.7 + 9 2554 c.2347G>A c.(2347-2349)Gtg>Atg p.V783M CAMTA1_ENST00000439411.2_Missense_Mutation_p.V783M NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTTCATCTCCGTGGAGGGGGG 0.637000 T WWTR1 epitheliod hemangioendothelioma 17 263 0 0 1 0 0 LPO 0 broad.mit.edu 37 17 56329723 56329723 + Missense_Mutation SNP C C A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr17:56329723C>A ENST00000262290.4 + 8 1277 c.961C>A c.(961-963)Cgc>Agc p.R321S LPO_ENST00000582328.1_Missense_Mutation_p.R238S|LPO_ENST00000421678.2_Missense_Mutation_p.R238S|LPO_ENST00000543544.1_Missense_Mutation_p.R262S NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 321 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R321C(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CAGCCGCCTCCGCAACCTCAG 0.617000 5 23 1 1 1 1 0 IGKV1D-43 0 broad.mit.edu 37 2 90249360 90249360 + RNA SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr2:90249360G>A ENST00000468879.1 + 0 497 TGAAGATTTTGCAACTTATTA 0.512000 4 128 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141719106 141719106 + Silent SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr7:141719106C>T ENST00000475668.2 + 4 489 c.435C>T c.(433-435)gtC>gtT p.V145V MGAM_ENST00000549489.2_Silent_p.V145V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 145 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GCAACCTTGTCAACACAAATG 0.542000 8 26 0 0 1 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22930773 22930773 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chrY:22930773G>A ENST00000288666.5 + 5 443 c.443G>A c.(442-444)cGc>cAc p.R148H NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 148 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 CGAACCATTCGCTACCCAGAT 0.423000 54 7 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134664756 134664756 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr10:134664756G>A ENST00000368586.5 - 40 5728 c.5628C>T c.(5626-5628)ggC>ggT p.G1876G TTC40_ENST00000263170.5_Silent_p.G37G NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 37 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TTTCCACGAGGCCGAGCTTGA 0.612000 8 29 0 0 1 0 0 KRT18P55 0 broad.mit.edu 37 17 26604099 26604099 + RNA SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr17:26604099C>T ENST00000577198.1 - 0 862 NR_028334.1 GCCAGGTGGTCGTTGAGGCTT 0.607000 8 60 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82132014 82132014 + Missense_Mutation SNP G G T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr16:82132014G>T ENST00000199936.4 + 5 1330 c.1137G>T c.(1135-1137)atG>atT p.M379I RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 379 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) CTCTAAGAATGCCTAACTACA 0.433000 15 80 5.03518e-11 5.40542e-11 1 1 0 CCBL1 883 broad.mit.edu 37 9 131597626 131597626 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr9:131597626G>A ENST00000436267.2 - 13 1529 c.1380C>T c.(1378-1380)ttC>ttT p.F460F CCBL1_ENST00000302586.3_Silent_p.F366F|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Silent_p.F316F Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 366 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) TCCACTTGACGAAGCGTCTGT 0.597000 24 175 0 0 1 0 0 LRRC37A11P 0 broad.mit.edu 37 17 37188096 37188096 + RNA SNP T T C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr17:37188096T>C ENST00000425901.2 + 0 1938 NR_033753.2 GGGCTTACCATCACTCCAGAA 0.517000 5 90 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427951 49427951 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr12:49427951G>A ENST00000301067.7 - 38 10638 c.10639C>T c.(10639-10641)Cgc>Tgc p.R3547C NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTGGCAGTGCGCTGCTTGGCA 0.542000 6 64 0 0 1 0 0 PLBD2 196463 broad.mit.edu 37 12 113825600 113825600 + Silent SNP C C G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr12:113825600C>G ENST00000280800.3 + 11 1522 c.1491C>G c.(1489-1491)ccC>ccG p.P497P PLBD2_ENST00000545182.2_Silent_p.P465P NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 497 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CCTGCAACCCCCAGCCCAATG 0.602000 287 172 0 0 1 0 0 CUL5 8065 broad.mit.edu 37 11 107969215 107969215 + Missense_Mutation SNP G G C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:107969215G>C ENST00000393094.2 + 18 2723 c.2107G>C c.(2107-2109)Gag>Cag p.E703Q NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 703 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) GAGAGAAGAAGAGAATGAAGG 0.318000 7 58 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184930876 184930876 + Nonsense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr4:184930876G>A ENST00000308497.4 + 3 2320 c.885G>A c.(883-885)tgG>tgA p.W295* STOX2_ENST00000438269.1_Nonsense_Mutation_p.W295* NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 295 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CTGAAGAGTGGCCCCTGCGAG 0.473000 4 6 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171761359 171761359 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:171761359G>A ENST00000361735.3 + 6 1943 c.1677G>A c.(1675-1677)ttG>ttA p.L559L METTL13_ENST00000362019.3_Silent_p.L473L|METTL13_ENST00000367737.5_Silent_p.L403L|METTL13_ENST00000458517.1_Silent_p.L558L|METTL13_ENST00000466643.1_3'UTR NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 559 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 TCGCCAGCTTGGCAGGAGGAG 0.537000 30 53 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95616435 95616435 + Missense_Mutation SNP C C G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr7:95616435C>G ENST00000324972.6 + 9 1055 c.862C>G c.(862-864)Cga>Gga p.R288G DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R271G|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R251G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R268G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R271G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R251G NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 288 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GTCCAAGCATCGAGTGGTCAC 0.428000 8 231 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7334874 7334874 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:7334874C>T ENST00000318881.6 + 3 983 c.746C>T c.(745-747)gCc>gTc p.A249V SYT9_ENST00000396716.2_Missense_Mutation_p.A217V NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 249 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) AATTTGCCCGCCAAGGACTTT 0.408000 18 91 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881480 228881480 + Missense_Mutation SNP C C G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr2:228881480C>G ENST00000392056.3 - 7 4136 c.4090G>C c.(4090-4092)Gtt>Ctt p.V1364L SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1364L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1364 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GACTCCTGAACAAGCAGAGTT 0.507000 44 26 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36643018 36643018 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr9:36643018G>A ENST00000543751.1 + 10 908 c.763G>A c.(763-765)Gta>Ata p.V255I MELK_ENST00000545008.1_Missense_Mutation_p.V216I|MELK_ENST00000538311.1_Missense_Mutation_p.V93I|MELK_ENST00000536329.1_Missense_Mutation_p.V216I|MELK_ENST00000298048.2_Missense_Mutation_p.V287I|MELK_ENST00000536860.1_Missense_Mutation_p.V239I|MELK_ENST00000536987.1_Missense_Mutation_p.V156I|MELK_ENST00000541717.1_Missense_Mutation_p.V287I NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 287 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) TGATGATTGCGTAACAGAACT 0.338000 16 52 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350120 134350120 + Missense_Mutation SNP T T C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr6:134350120T>C ENST00000275230.5 - 2 998 c.843A>G c.(841-843)atA>atG p.I281M NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 281 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GTGTTAGTCCTATCATTATTC 0.378000 21 42 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227203873 227203873 + Silent SNP T T G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:227203873T>G ENST00000366769.3 - 33 5951 c.4660A>C c.(4660-4662)Aga>Cga p.R1554R CDC42BPA_ENST00000366767.3_Silent_p.R1473R|CDC42BPA_ENST00000366765.3_Silent_p.R1567R|CDC42BPA_ENST00000535525.1_Silent_p.R1534R|CDC42BPA_ENST00000366766.2_Silent_p.R1589R|CDC42BPA_ENST00000366764.2_Silent_p.R1526R|CDC42BPA_ENST00000334218.5_Silent_p.R1554R NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1567 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) AATTTATTTCTCATTTCTGGA 0.343000 6 87 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053219 85053219 + RNA SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr15:85053219C>T ENST00000414190.2 - 0 233 NR_003246.2 TGCAGCCTCTCCTGCTCCTCC 0.522000 3 1 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32265317 32265317 + Missense_Mutation SNP C C T rs3213172 TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr20:32265317C>T ENST00000343380.5 - 5 894 c.755G>A c.(754-756)cGt>cAt p.R252H NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 252 Dimerization (Potential).|Required for interaction with TRIM28. R -> H (in dbSNP:rs3213172). apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 TGCAATGCTACGAAGGTCCTG 0.562000 4 37 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196963263 196963263 + Nonsense_Mutation SNP A A T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:196963263A>T ENST00000367414.5 + 4 612 c.556A>T c.(556-558)Aaa>Taa p.K186* CFHR5_ENST00000256785.4_Nonsense_Mutation_p.K162* NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 162 Sushi 3. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TCAGCCAAAAAAAGAAAGCTA 0.338000 61 47 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886677 57886677 + Missense_Mutation SNP C C A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:57886677C>A ENST00000302610.1 - 1 239 c.240G>T c.(238-240)caG>caT p.Q80H OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) TGGCTAGGATCTGAGGGGTGA 0.507000 8 24 1.76689e-08 1.81667e-08 1 1 0 MYH2 4620 broad.mit.edu 37 17 10447217 10447217 + Splice_Site SNP A A T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr17:10447217A>T ENST00000245503.5 - 7 1033 c.e7+1 MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.?(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AATCAGACTCACCTGTATTTT 0.478000 4 47 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53621471 53621471 + Missense_Mutation SNP T T C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chrX:53621471T>C ENST00000342160.3 - 30 3948 c.3491A>G c.(3490-3492)aAt>aGt p.N1164S HUWE1_ENST00000262854.6_Missense_Mutation_p.N1164S|HUWE1_ENST00000218328.8_Missense_Mutation_p.N1164S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1164 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AAAAAGAGCATTGTGGCCTCC 0.458000 4 10 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268268 21268268 + Missense_Mutation SNP G G T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:21268268G>T ENST00000602326.1 - 12 1812 c.1229C>A c.(1228-1230)gCt>gAt p.A410D EIF4G3_ENST00000400422.1_Missense_Mutation_p.A404D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.A404D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A410D|EIF4G3_ENST00000356916.3_Missense_Mutation_p.A415D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A404D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A8D NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 404 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGTGATGGGAGCTGGGATACA 0.478000 15 59 1.5739e-10 1.66514e-10 1 1 0 OR51E2 81285 broad.mit.edu 37 11 4703866 4703866 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:4703866C>T ENST00000396950.3 - 2 315 c.76G>A c.(76-78)Gtt>Att p.V26I NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GGGAAGCCAACCCAGAAATGG 0.507000 5 36 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102987372 102987372 + Missense_Mutation SNP A A G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:102987372A>G ENST00000375735.2 + 5 839 c.695A>G c.(694-696)gAt>gGt p.D232G DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D232G|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D232G NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 232 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GATGTTGTAGATGATGTGTGG 0.338000 16 77 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160388965 160388965 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:160388965G>A ENST00000368061.2 + 4 840 c.366G>A c.(364-366)acG>acA p.T122T NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 122 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTTCCTCACGCCTCTGGCCT 0.667000 18 38 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632931 32632931 + Missense_Mutation SNP G G C TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr9:32632931G>C ENST00000242310.4 - 1 2736 c.2647C>G c.(2647-2649)Ctt>Gtt p.L883V NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 883 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCAGACTTAAGCACCCACCAG 0.463000 8 172 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46397443 46397443 + Silent SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:46397443C>T ENST00000454345.1 + 22 2642 c.2517C>T c.(2515-2517)cgC>cgT p.R839R DGKZ_ENST00000318201.8_Silent_p.R628R|DGKZ_ENST00000532868.2_Silent_p.R655R|DGKZ_ENST00000395574.3_Silent_p.R617R|DGKZ_ENST00000456247.2_Silent_p.R650R|DGKZ_ENST00000528615.1_Silent_p.R429R|DGKZ_ENST00000527911.1_Silent_p.R651R|DGKZ_ENST00000421244.2_Silent_p.R651R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Silent_p.R667R NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 839 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AGGTGAGTCGCGTCAGCATGC 0.692000 3 3 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52246385 52246385 + Missense_Mutation SNP C C T TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr3:52246385C>T ENST00000394965.2 + 11 2071 c.1711C>T c.(1711-1713)Cgg>Tgg p.R571W ALAS1_ENST00000484952.1_Missense_Mutation_p.R571W|ALAS1_ENST00000469224.1_Missense_Mutation_p.R571W|ALAS1_ENST00000310271.2_Missense_Mutation_p.R571W NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 571 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGAGCTCCTACGGATTGCCCC 0.517000 46 156 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109215691 109215691 + Silent SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr6:109215691G>A ENST00000392644.4 + 6 861 c.693G>A c.(691-693)gcG>gcA p.A231A ARMC2_ENST00000368972.3_Silent_p.A66A NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 231 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) AGAGACATGCGAGGGCCTCAT 0.483000 21 4 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228437698 228437698 + Missense_Mutation SNP G G A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr1:228437698G>A ENST00000570156.2 + 15 4416 c.4342G>A c.(4342-4344)Gca>Aca p.A1448T OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1356T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1356T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 426 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGAGCAGCTGGCACACAGGAA 0.627000 24 92 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591318 67591319 + Splice_Site INS - - A TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr5:67591318_67591319insA ENST00000521381.1 + 14 2430 c.e14+2 PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(2)|p.Y580fs*1(1)|p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CACTGAAGAGTAAGTAGTTACT 0.356 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 18 27 --- --- --- --- APOBEC2 10930 broad.mit.edu 37 6 41029171 41029172 + Frame_Shift_Ins INS - - G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr6:41029171_41029172insG ENST00000244669.2 + 2 280_281 c.236_237insG c.(235-237)aggfs p.R79fs NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 79 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) GCACAGGGCAAGGGGGGCCAAG 0.559 19 40 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151209057 151209057 + Frame_Shift_Del DEL C C - TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr6:151209057delC ENST00000367321.3 + 7 994 c.720delC c.(718-720)ttfs p.F240fs MTHFD1L_ENST00000367307.4_Frame_Shift_Del_p.F240fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 240 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) AATGCCTGTTCCAGAGAAAAG 0.428 31 77 --- --- --- --- CDK2AP2 10263 broad.mit.edu 37 11 67275498 67275498 + Frame_Shift_Del DEL G G - TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr11:67275498delG ENST00000301488.3 - 1 604 c.56delC c.(55-57)ctfs p.P19fs CDK2AP2_ENST00000531506.1_Frame_Shift_Del_p.P19fs NM_005851.3 NP_005842.1 O75956 CDKA2_HUMAN cyclin-dependent kinase 2 associated protein 2 19 lung(1) 1 GCCCGGCCCAGGGGTGCTGGA 0.711 2 4 --- --- --- --- UBL7 84993 broad.mit.edu 37 15 74744688 74744689 + Frame_Shift_Del DEL CT CT - TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr15:74744688_74744689delCT ENST00000567435.1 - 4 798_799 c.335_336delAG c.(334-336)gfs p.E112fs UBL7_ENST00000565335.1_Frame_Shift_Del_p.E112fs|UBL7_ENST00000361351.4_Frame_Shift_Del_p.E112fs|UBL7_ENST00000395081.2_Frame_Shift_Del_p.E112fs|UBL7_ENST00000564488.1_Frame_Shift_Del_p.E112fs Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 112 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 ACACCCGGAACTCTCTCATGGC 0.579 2 4 --- --- --- --- TFAP4 7023 broad.mit.edu 37 16 4310592 4310593 + Frame_Shift_Ins INS - - G TCGA-ZG-A9L5-01A-12D-A41K-08 TCGA-ZG-A9L5-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd23f776-bd81-4c83-b0a2-6657ac9fd76d 0c8cd31c-0194-4b85-bb50-ba9f14c78b19 g.chr16:4310592_4310593insG ENST00000204517.6 - 5 857_858 c.529_530insC c.(529-531)ctcfs p.L177fs NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 177 Leucine-zipper 2. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CTCCAGCGAGCGCACCTGGAGG 0.624 6 9 --- --- --- ---