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 CHD3 1107 broad.mit.edu 37 17 7802767 7802767 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr17:7802767C>T ENST00000380358.4 + 15 2628 c.2627C>T c.(2626-2628)aCg>aTg p.T876M CHD3_ENST00000358181.4_Missense_Mutation_p.T817M|CHD3_ENST00000330494.7_Missense_Mutation_p.T817M NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 817 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GTGACATACACGGGTGACAAG 0.493000 4 165 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269242 37269242 + Silent SNP A A T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr13:37269242A>T ENST00000315190.3 + 2 473 c.27A>T c.(25-27)ggA>ggT p.G9G NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 9 integral to membrane CTTCCTCAGGATTTTCGGGAA 0.478000 26 56 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21549078 21549078 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr14:21549078C>T ENST00000298694.4 + 13 2670 c.2543C>T c.(2542-2544)gCc>gTc p.A848V ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A848V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 848 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GAGGAGAATGCCACCTCCCAG 0.642000 4 128 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 7 916 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215201 140215201 + Silent SNP C C T rs145763112 TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr5:140215201C>T ENST00000525929.1 + 1 1233 c.1233C>T c.(1231-1233)agC>agT p.S411S PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S411S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACAGCGCTCTGGACC 0.597000 5 133 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 3 11 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47043265 47043265 + Silent SNP G G A rs142878502 by1000genomes TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr3:47043265G>A ENST00000450053.3 + 30 4910 c.4731G>A c.(4729-4731)gcG>gcA p.A1577A NBEAL2_ENST00000292309.5_Silent_p.A1393A|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1577 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GTGAGATGGCGCAGATTGGCC 0.602000 11 77 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150390085 150390085 + Missense_Mutation SNP C C A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr1:150390085C>A ENST00000401000.4 + 2 284 c.219C>A c.(217-219)caC>caA p.H73Q RPRD2_ENST00000369068.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 73 CID. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CATATCCCCACCGTTTGAATC 0.353000 44 152 4.10826e-27 4.45062e-27 1 1 0 FAM46D 169966 broad.mit.edu 37 X 79698960 79698960 + Missense_Mutation SNP G G A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chrX:79698960G>A ENST00000538312.1 + 5 1256 c.922G>A c.(922-924)Gaa>Aaa p.E308K FAM46D_ENST00000308293.5_Missense_Mutation_p.E308K NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 308 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 AGTTGTGAATGAAAGCACTGT 0.388000 4 70 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520469 33520469 + Silent SNP T T C TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr17:33520469T>C ENST00000297307.5 - 1 943 c.858A>G c.(856-858)ctA>ctG p.L286L NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 286 DUF6 2. integral to membrane p.L286L(1) CCTCGGAATGTAGGACAGCGC 0.592000 5 159 0 0 1 0 0 CTD-2224J9.8 0 broad.mit.edu 37 19 54007225 54007225 + RNA SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr19:54007225C>T ENST00000601966.1 + 0 4 GGGGCTCATGCTCTGGGGCAG 0.597000 3 2 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 3 30 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003905 93003905 + Missense_Mutation SNP G G A TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr8:93003905G>A ENST00000523629.1 - 7 1407 c.953C>T c.(952-954)cCc>cTc p.P318L RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 318 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCTGTGGCTGGGGTGTCGATA 0.542000 42 107 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33285700 33285700 + Missense_Mutation SNP G G T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr17:33285700G>T ENST00000314144.5 - 3 330 c.215C>A c.(214-216)cCa>cAa p.P72Q CCT6B_ENST00000436961.3_Intron|CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 72 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) GGAAGCTGTTGGATGTTGAAT 0.388000 3 59 0.014758 0.0153483 1 1 0 ATP13A3 79572 broad.mit.edu 37 3 194154518 194154518 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr3:194154518C>T ENST00000439040.1 - 21 3019 c.2228G>A c.(2227-2229)cGc>cAc p.R743H ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H Q9H7F0 AT133_HUMAN ATPase type 13A3 743 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CATGACGGTGCGAATGTTGGC 0.348000 5 119 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685938 125685938 + Silent SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chrX:125685938C>T ENST00000371126.1 - 1 896 c.654G>A c.(652-654)gcG>gcA p.A218A NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 218 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TCCGCCACAGCGCCACAGTGC 0.652000 3 35 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36054315 36054315 + Missense_Mutation SNP G G T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr19:36054315G>T ENST00000262623.3 - 2 155 c.127C>A c.(127-129)Ctg>Atg p.L43M NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 43 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ATGTTCTCCAGCTTCTCCTTC 0.642000 4 162 0.150653 0.150653 1 1 0 FAM86DP 692099 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 4 88 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607402 46607402 + Missense_Mutation SNP C C T TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr2:46607402C>T ENST00000263734.3 + 12 2101 c.1591C>T c.(1591-1593)Ccc>Tcc p.P531S NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 531 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GACACTGGCACCCTATATCCC 0.587000 108 83 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792735 109792736 + In_Frame_Ins INS - - CGC rs145548198 by1000genomes TCGA-QT-A5XL-01A-11D-A35D-08 TCGA-QT-A5XL-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e54c01e-51df-4935-ac97-1092168b1e6c dd4db503-755c-4a60-bae5-e60add71d71c g.chr1:109792735_109792736insCGC ENST00000271332.3 + 1 95_96 c.34_35insCGC c.(34-36)gcc>CGCgcc p.11_12insR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 11 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCCTCCCAACgccgccgccg 0.752 3 6 --- --- --- ---