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 KLHDC7A 127707 broad.mit.edu 37 1 18809302 18809302 + Silent SNP G G C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:18809302G>C ENST00000400664.1 + 1 1879 c.1827G>C c.(1825-1827)ctG>ctC p.L609L NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 609 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCCGCCTGGACCGCTGGG 0.701 5 11 --- --- --- --- MOB3C 148932 broad.mit.edu 37 1 47075780 47075780 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:47075780C>T ENST00000371940.1 - 2 3658 c.584G>A c.(583-585)aGc>aAc p.S195N MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 172 metal ion binding GCTGAGGATGCTATCGAAGTG 0.557 4 95 --- --- --- --- KCNC4 3749 broad.mit.edu 37 1 110774894 110774894 + Missense_Mutation SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:110774894G>T ENST00000369787.3 + 4 1898 c.1871G>T c.(1870-1872)tGc>tTc p.C624F KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 624 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGGCTGCATGCCCTCCAACT 0.547 3 11 --- --- --- --- CD1E 913 broad.mit.edu 37 1 158325904 158325904 + Missense_Mutation SNP C C A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:158325904C>A ENST00000434258.1 + 4 918 c.907C>A c.(907-909)Cag>Aag p.Q303K CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Intron P15812 CD1E_HUMAN CD1e molecule 0 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GGGTGAGAAACAGCTGAGGCT 0.532 7 38 --- --- --- --- PGAP1 80055 broad.mit.edu 37 2 197791205 197791205 + Missense_Mutation SNP G G C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr2:197791205G>C ENST00000354764.4 - 1 250 c.136C>G c.(136-138)Ccg>Gcg p.P46A PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 TGATACTCCGGGTACTCAAAC 0.542 7 212 --- --- --- --- AOX1 316 broad.mit.edu 37 2 201499584 201499584 + Silent SNP A A G TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr2:201499584A>G ENST00000374700.2 + 21 2533 c.2292A>G c.(2290-2292)ggA>ggG p.G764G AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 764 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTCCCAAGGGAGAGGATCAAG 0.413 3 51 --- --- --- --- CFLAR 8837 broad.mit.edu 37 2 202025331 202025331 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr2:202025331G>A ENST00000309955.3 + 9 1485 c.970G>A c.(970-972)Gtg>Atg p.V324M CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M NM_001202515.1|NM_003879.5 NP_001189444.1|NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 TGTGTATGGTGTGGATCAGAC 0.522 14 75 --- --- --- --- PFKFB4 5210 broad.mit.edu 37 3 48573816 48573816 + Missense_Mutation SNP A A G TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr3:48573816A>G ENST00000232375.3 - 8 825 c.713T>C c.(712-714)aTc>aCc p.I238T PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 238 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GTAATATACGATGCGGCTCTG 0.577 24 98 --- --- --- --- POLR2B 5431 broad.mit.edu 37 4 57856954 57856954 + Missense_Mutation SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:57856954G>T ENST00000381227.1 + 4 546 c.133G>T c.(133-135)Gat>Tat p.D45Y POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 45 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) ACAACAGCTGGATTCTTTTGA 0.408 30 96 --- --- --- --- UGT2B15 7366 broad.mit.edu 37 4 69535901 69535901 + Missense_Mutation SNP A A T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:69535901A>T ENST00000338206.5 - 1 445 c.436T>A c.(436-438)Ttt>Att p.F146I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 146 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ATGACATCAAACTTTGACTCT 0.373 12 307 --- --- --- --- NPY2R 4887 broad.mit.edu 37 4 156135918 156135918 + Missense_Mutation SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:156135918T>A ENST00000329476.3 + 2 1316 c.827T>A c.(826-828)gTg>gAg p.V276E NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 276 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GTGGTGGTGGTGTTTGCGGTC 0.512 7 33 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38877389 38877389 + Silent SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:38877389G>T ENST00000359357.3 + 63 9212 c.8958G>T c.(8956-8958)ctG>ctT p.L2986L DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGGAGGCTCTGATTGCTGTGG 0.453 5 74 --- --- --- --- SMC2 10592 broad.mit.edu 37 9 106858474 106858474 + Missense_Mutation SNP G G C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr9:106858474G>C ENST00000286398.7 + 3 502 c.214G>C c.(214-216)Gct>Cct p.A72P SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 72 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AAATGGGCAGGCTGGTATTAC 0.343 22 77 --- --- --- --- APBB1IP 54518 broad.mit.edu 37 10 26785235 26785235 + Silent SNP T T C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr10:26785235T>C ENST00000376236.4 + 4 530 c.75T>C c.(73-75)agT>agC p.S25S APBB1IP_ENST00000356785.4_Silent_p.S25S NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 25 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TTTCACAGAGTTTAGGAGTTG 0.378 4 61 --- --- --- --- PPIF 10105 broad.mit.edu 37 10 81113578 81113578 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr10:81113578G>A ENST00000225174.3 + 6 675 c.604G>A c.(604-606)Gac>Aac p.D202N PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 202 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) TGTCATCACAGACTGTGGCCA 0.537 6 40 --- --- --- --- GDPD4 220032 broad.mit.edu 37 11 76980034 76980034 + Missense_Mutation SNP A A C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr11:76980034A>C ENST00000315938.4 - 8 809 c.559T>G c.(559-561)Tgc>Ggc p.C187G GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 187 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 TCCTGAATGCAGGGAGAATAA 0.438 53 94 --- --- --- --- IGFBP6 3489 broad.mit.edu 37 12 53494618 53494618 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:53494618G>A ENST00000548547.1 + 2 733 c.451G>A c.(451-453)Gcg>Acg p.A151T IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 153 negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GCCCAATTCTGCGGGTGTCCA 0.602 14 66 --- --- --- --- MYO1E 4643 broad.mit.edu 37 15 59500983 59500983 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr15:59500983C>T ENST00000288235.4 - 14 1826 c.1427G>A c.(1426-1428)gGg>gAg p.G476E NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 476 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CTGATCTGCCCCCTCACCCAC 0.537 13 54 --- --- --- --- CIRH1A 84916 broad.mit.edu 37 16 69194341 69194341 + Missense_Mutation SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr16:69194341T>A ENST00000563094.1 + 13 1561 c.1527T>A c.(1525-1527)caT>caA p.H509Q CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 509 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) CTGGAGTCCATGTCTACAACG 0.478 4 82 --- --- --- --- CDH13 1012 broad.mit.edu 37 16 83636156 83636156 + Missense_Mutation SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr16:83636156T>A ENST00000566620.1 + 8 1348 c.1058T>A c.(1057-1059)aTc>aAc p.I353N CDH13_ENST00000428848.3_Missense_Mutation_p.I314N|CDH13_ENST00000268613.10_Missense_Mutation_p.I400N NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 353 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACGATCATGATCGATGACAAA 0.453 34 115 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434822 49434822 + Frame_Shift_Del DEL A A - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:49434822delA ENST00000301067.7 - 31 6730 c.6731delT c.(6730-6732)ttcfs p.F2244fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGTTTGAGGAATGGGTCAGG 0.662 11 41 --- --- --- --- SLC1A6 6511 broad.mit.edu 37 19 15083615 15083616 + Frame_Shift_Del DEL GC GC - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr19:15083615_15083616delGC ENST00000598504.1 - 4 1466_1467 c.107_108delGC c.(106-108)cgcfs p.R36fs SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 36 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GCAGGCGCGTGCGCAGTGCTCT 0.678 9 22 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42754713 42754713 + Frame_Shift_Del DEL A A - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr19:42754713delA ENST00000222329.4 - 2 184 c.27delT c.(25-27)tttfs p.F9fs ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 9 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CCGGGAAGGCAAACCCTGGGG 0.637 10 13 --- --- --- --- SDCBP2 27111 broad.mit.edu 37 20 1293985 1293985 + Splice_Site DEL T T - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr20:1293985delT ENST00000360779.3 - 5 556 c.383delA c.(382-384)cag>cg p.Q128fs SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 128 PDZ 1. intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 GCGCCCTACCTGGTCGACCTT 0.697 2 4 --- --- --- ---