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 CRB1 23418 broad.mit.edu 37 1 197313415 197313415 + Silent SNP A A G TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr1:197313415A>G ENST00000367400.3 + 3 792 c.657A>G c.(655-657)gtA>gtG p.V219V CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.V219V|CRB1_ENST00000543483.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 219 EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.V219V(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAAAAGGTGTAAACTGTGAAT 0.398 6 397 --- --- --- --- BCL11A 53335 broad.mit.edu 37 2 60773250 60773250 + Missense_Mutation SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr2:60773250C>T ENST00000335712.6 - 2 468 c.241G>A c.(241-243)Gtg>Atg p.V81M BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 81 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.V81M(3) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGCTTATCCACAGCTTTTTCT 0.483 T IGH@ B-CLL 5 133 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141473639 141473639 + Missense_Mutation SNP A A C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr2:141473639A>C ENST00000389484.3 - 37 6897 c.5926T>G c.(5926-5928)Tta>Gta p.L1976V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1976 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L1976V(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTCAATTAAGTTGAAACCA 0.343 TSP Lung(27;0.18) 92 216 --- --- --- --- CUL3 8452 broad.mit.edu 37 2 225379456 225379456 + Missense_Mutation SNP T T C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr2:225379456T>C ENST00000264414.4 - 4 750 c.412A>G c.(412-414)Aac>Gac p.N138D CUL3_ENST00000344951.4_Missense_Mutation_p.N72D|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 138 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.N138D(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTGTAGACGTTCTCCACATTA 0.338 27 79 --- --- --- --- DOCK3 1795 broad.mit.edu 37 3 51101984 51101984 + Missense_Mutation SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr3:51101984G>A ENST00000266037.9 + 6 444 c.421G>A c.(421-423)Gag>Aag p.E141K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 141 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.E130K(1)|p.E141K(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCAGGTGCGGGAGGTTAAGCG 0.453 28 120 --- --- --- --- DOCK3 1795 broad.mit.edu 37 3 51101986 51101986 + Silent SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr3:51101986G>A ENST00000266037.9 + 6 446 c.423G>A c.(421-423)gaG>gaA p.E141E NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 141 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.E141E(2)|p.E130E(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGGTGCGGGAGGTTAAGCGGC 0.453 27 122 --- --- --- --- DOCK3 1795 broad.mit.edu 37 3 51102013 51102013 + Silent SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr3:51102013G>A ENST00000266037.9 + 6 473 c.450G>A c.(448-450)ctG>ctA p.L150L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 150 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.L150L(2)|p.L139L(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCGTGCGCCTGGACTGGGGTA 0.463 26 123 --- --- --- --- RYBP 23429 broad.mit.edu 37 3 72428496 72428496 + Missense_Mutation SNP T T C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr3:72428496T>C ENST00000477973.2 - 2 505 c.506A>G c.(505-507)gAa>gGa p.E169G NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein Interaction with E4TF1B. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding p.K169R(2) prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) ACTTTCTCCTTCTTCTCCTTT 0.408 65 193 --- --- --- --- CDKL3 51265 broad.mit.edu 37 5 133634385 133634385 + Missense_Mutation SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr5:133634385C>T ENST00000265334.4 - 13 1854 c.1736G>A c.(1735-1737)tGc>tAc p.C579Y CDKL3_ENST00000536186.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR NM_001113575.1 NP_001107047.1 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 579 cytoplasm ATP binding|cyclin-dependent protein kinase activity p.C579Y(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTCCCCTCGCAATGGCCATC 0.348 37 125 --- --- --- --- PSD2 84249 broad.mit.edu 37 5 139189047 139189047 + Missense_Mutation SNP T T C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr5:139189047T>C ENST00000274710.3 + 2 227 c.22T>C c.(22-24)Tct>Cct p.S8P NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 8 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.S8P(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGCTCTTATCTGCAGTGCC 0.627 3 21 --- --- --- --- ATP10B 23120 broad.mit.edu 37 5 159992774 159992774 + Missense_Mutation SNP C C G TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr5:159992774C>G ENST00000327245.5 - 26 4918 c.4072G>C c.(4072-4074)Gtc>Ctc p.V1358L NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1358 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.V1358L(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTCGGGGACAGGGGCAGGC 0.517 58 234 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100345786 100345786 + RNA SNP G G T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr7:100345786G>T ENST00000542585.1 + 0 1198 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.K350N(3) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTTTTGGAAAGACCCCAGAGC 0.597 12 59 --- --- --- --- KDM4C 23081 broad.mit.edu 37 9 7169914 7169914 + Missense_Mutation SNP G G C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr9:7169914G>C ENST00000381306.3 + 21 3583 c.3018G>C c.(3016-3018)ttG>ttC p.L1006F KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381309.3_Intron NM_001146694.1 NP_001140166.1 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 0 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.L1006F(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 GATGCCACTTGGGGACCTGCC 0.448 12 53 --- --- --- --- IKBKAP 8518 broad.mit.edu 37 9 111662626 111662626 + Missense_Mutation SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr9:111662626C>T ENST00000374647.5 - 19 2351 c.2044G>A c.(2044-2046)Gtg>Atg p.V682M IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 682 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity p.V682M(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCATGGGACACATGATTGCTG 0.458 22 108 --- --- --- --- WDR38 401551 broad.mit.edu 37 9 127618187 127618187 + Missense_Mutation SNP C C A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr9:127618187C>A ENST00000373574.1 + 4 411 c.355C>A c.(355-357)Cag>Aag p.Q119K NM_001045476.1|NM_001276374.1 NP_001038941.1|NP_001263303.1 Q5JTN6 WDR38_HUMAN WD repeat domain 38 119 p.Q119K(1) breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 TGACTCGAGACAGCTGGCATC 0.622 OREG0019485 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 139 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113105824 113105824 + Missense_Mutation SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr11:113105824C>T ENST00000316851.7 + 13 1733 c.1733C>T c.(1732-1734)gCg>gTg p.A578V NCAM1_ENST00000533760.1_Missense_Mutation_p.A460V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 588 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.A587V(2)|p.A578V(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGGCTGGCGGCGCTCAATGGC 0.587 9 15 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118343971 118343971 + Silent SNP T T C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr11:118343971T>C ENST00000534358.1 + 3 2120 c.2097T>C c.(2095-2097)gcT>gcC p.A699A KMT2A_ENST00000354520.4_Silent_p.A699A|KMT2A_ENST00000389506.5_Silent_p.A699A NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.A699A(2) TTCTGAGAGCTCCAAGATTTA 0.453 33 124 --- --- --- --- OR10G9 219870 broad.mit.edu 37 11 123893785 123893785 + Silent SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr11:123893785C>T ENST00000375024.1 + 1 66 c.66C>T c.(64-66)gaC>gaT p.D22D NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D22D(2)|p.D22E(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CAGGGCTGGACGCCCCACTCT 0.587 18 416 --- --- --- --- OR10G7 390265 broad.mit.edu 37 11 123909643 123909643 + Silent SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr11:123909643G>A ENST00000330487.5 - 1 74 c.66C>T c.(64-66)gaC>gaT p.D22D NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D22D(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGAGGGGGGCGTCCAGCCCTG 0.562 12 129 --- --- --- --- BARX2 8538 broad.mit.edu 37 11 129312807 129312807 + Missense_Mutation SNP A A G TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr11:129312807A>G ENST00000281437.4 + 3 662 c.566A>G c.(565-567)aAg>aGg p.K189R BARX2_ENST00000526127.1_Missense_Mutation_p.K44R|BARX2_ENST00000531946.1_Missense_Mutation_p.K67R NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 189 p.K189R(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) ATGAAATGGAAGAAAATGGTA 0.498 7 125 --- --- --- --- SPIC 121599 broad.mit.edu 37 12 101876611 101876611 + Silent SNP A A G TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr12:101876611A>G ENST00000551346.1 + 5 411 c.252A>G c.(250-252)caA>caG p.Q84Q SPIC_ENST00000299272.5_Silent_p.Q84Q Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 84 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q84Q(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 ATATTCATCAATCTCTGCAGA 0.403 131 332 --- --- --- --- FERMT2 10979 broad.mit.edu 37 14 53385917 53385917 + Missense_Mutation SNP G G T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr14:53385917G>T ENST00000395631.2 - 3 531 c.315C>A c.(313-315)aaC>aaA p.N105K FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K|FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K Q96AC1 FERM2_HUMAN fermitin family member 2 105 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding p.N105K(1) ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) CATACTTCATGTTGGGAAGCT 0.398 6 288 --- --- --- --- HYPK 25764 broad.mit.edu 37 15 44094002 44094002 + Nonstop_Mutation SNP T T G TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr15:44094002T>G ENST00000406925.1 + 5 4499 c.388T>G c.(388-390)Tga>Gga p.*130G SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G huntingtin interacting protein K all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;8.1e-07) CCTAACCAACTGATGCGTGCT 0.413 31 92 --- --- --- --- ZSCAN32 54925 broad.mit.edu 37 16 3440104 3440104 + Silent SNP T T A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr16:3440104T>A ENST00000396852.4 - 5 964 c.657A>T c.(655-657)gtA>gtT p.V219V ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Silent_p.V7V|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000304926.3_Silent_p.V7V NM_001284527.1|NM_001284529.1 NP_001271456.1|NP_001271458.1 zinc finger and SCAN domain containing 32 p.V7V(1) GACAGAGGGATACAGCTCTGT 0.582 13 39 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22804338 22804338 + Missense_Mutation SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr18:22804338G>A ENST00000361524.3 - 4 3692 c.3544C>T c.(3544-3546)Ccc>Tcc p.P1182S ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1182 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTGATTCTGGGCATTGGTGAT 0.478 T PAX5 ALL 4 191 --- --- --- --- CATSPERD 257062 broad.mit.edu 37 19 5768180 5768180 + Splice_Site SNP A A C TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr19:5768180A>C ENST00000381624.3 + 18 1622 c.1561A>C c.(1561-1563)Aaa>Caa p.K521Q CATSPERD_ENST00000381614.2_Splice_Site_p.K179Q|CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 521 integral to membrane p.K521Q(1) TGCTTGCAGCAAAGTTTCCGC 0.537 39 104 --- --- --- --- LDLR 3949 broad.mit.edu 37 19 11227612 11227612 + Missense_Mutation SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr19:11227612C>T ENST00000558518.1 + 12 1970 c.1783C>T c.(1783-1785)Cgg>Tgg p.R595W LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 595 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.R595W(1)|p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGGGGGCAACCGGAAGACCAT 0.542 73 342 --- --- --- --- JAK3 3718 broad.mit.edu 37 19 17950419 17950419 + Silent SNP T T A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr19:17950419T>A ENST00000458235.1 - 10 1407 c.1308A>T c.(1306-1308)ggA>ggT p.G436G JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.G436G NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 436 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.G436G(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GAAGGAAGGTTCCTGTGGGGC 0.612 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 30 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50248602 50248602 + Silent SNP C C T TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr19:50248602C>T ENST00000246801.3 - 7 1126 c.1044G>A c.(1042-1044)gtG>gtA p.V348V TSKS_ENST00000358830.3_Silent_p.V148V NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 348 protein binding p.V348V(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GGGCTTCCTGCACCGCCCCCT 0.706 3 8 --- --- --- --- SNX12 29934 broad.mit.edu 37 X 70280884 70280884 + Silent SNP C C A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chrX:70280884C>A ENST00000374274.3 - 4 587 c.471G>T c.(469-471)ccG>ccT p.P157P SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Silent_p.P153P NM_001256185.1|NM_001256188.1|NM_013346.3 NP_001243114.1|NP_001243117.1|NP_037478.2 Q9UMY4 SNX12_HUMAN sorting nexin 12 157 cell communication|protein transport membrane phosphatidylinositol binding|protein binding p.P157P(1) endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 Renal(35;0.156) GCACCTTCCCCGGGACGTAGT 0.512 3 22 --- --- --- --- MT-CO1 4512 broad.mit.edu 37 M 7026 7026 + Missense_Mutation SNP G G A TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chrM:7026G>A ENST00000361624.2 + 1 1123 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 ACTACGTTGTAGCTCACTTCC 0.448 4 2 --- --- --- --- MBD6 114785 broad.mit.edu 37 12 57920425 57920425 + Frame_Shift_Del DEL G G - TCGA-CH-5744-01A-11D-1576-08 TCGA-CH-5744-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e46606-ecb4-4a53-acaf-e9e46855fe4d 84029535-3038-490b-b904-910d79fce5c8 g.chr12:57920425delG ENST00000355673.3 + 7 1853 c.1497delG c.(1495-1497)ctgfs p.L499fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 499 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCGAAGGACTGGGGATGGGGG 0.647 51 217 --- --- --- ---