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 PLXNB1 5364 broad.mit.edu 37 3 48451952 48451952 + Missense_Mutation SNP A A C TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr3:48451952A>C ENST00000358536.4 - 30 5701 c.5432T>G c.(5431-5433)gTg>gGg p.V1811G PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1628G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1811G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1628G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V422G NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1811 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding p.V1811G(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGCCCGGCCACCCCAGACCG 0.592000 7 21 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 9 59 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1175152 1175152 + Splice_Site SNP G G C TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr10:1175152G>C ENST00000358220.1 + 14 1497 c.e14-1 WDR37_ENST00000263150.4_Splice_Site|WDR37_ENST00000482165.1_Splice_Site Q9Y2I8 WDR37_HUMAN WD repeat domain 37 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) ATCATCACTAGGGCCACAGGA 0.458000 3 41 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 31144181 31144181 + Missense_Mutation SNP C C T TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr4:31144181C>T ENST00000543491.1 + 3 3478 c.3478C>T c.(3478-3480)Ccg>Tcg p.P1160S O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CTGCTGGATGCCGGTCCGCAC 0.537000 4 106 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101705312 101705312 + Missense_Mutation SNP G G A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr1:101705312G>A ENST00000305352.6 + 2 1147 c.772G>A c.(772-774)Gta>Ata p.V258I NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 258 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GCTCAAGACCGTAATTATCGT 0.587000 4 121 0 0 1 0 0 LRRC28 123355 broad.mit.edu 37 15 99926292 99926292 + Missense_Mutation SNP T T G TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr15:99926292T>G ENST00000301981.3 + 10 1329 c.1089T>G c.(1087-1089)ttT>ttG p.F363L LRRC28_ENST00000422500.2_Missense_Mutation_p.F294L|LRRC28_ENST00000558879.1_3'UTR|LRRC28_ENST00000331450.5_Missense_Mutation_p.F89L|LRRC28_ENST00000447360.2_Missense_Mutation_p.L310W NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 363 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) TGCAGACTTTTGACCTGCTGA 0.512000 17 369 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124210197 124210197 + Missense_Mutation SNP G G A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr3:124210197G>A ENST00000360013.3 + 31 4736 c.4609G>A c.(4609-4611)Gtg>Atg p.V1537M KALRN_ENST00000240874.3_Missense_Mutation_p.V1537M|KALRN_ENST00000460856.1_Missense_Mutation_p.V1528M NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1537 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GACCGAGCACGTGGAGGGCGA 0.572000 13 60 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7673068 7673068 + Silent SNP G G A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr19:7673068G>A ENST00000446248.2 + 7 860 c.759G>A c.(757-759)gtG>gtA p.V253V CAMSAP3_ENST00000160298.4_Silent_p.V226V NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 226 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TCCCGACGGTGACCAGCCTCC 0.662000 9 67 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712131 140712131 + Missense_Mutation SNP G G A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr5:140712131G>A ENST00000517417.1 + 1 1880 c.1880G>A c.(1879-1881)cGc>cAc p.R627H PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R627H NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGGTGCGCACGGCGCGA 0.697000 4 87 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351257 40351257 + Missense_Mutation SNP G G A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr4:40351257G>A ENST00000310169.2 + 4 863 c.724G>A c.(724-726)Gtc>Atc p.V242I NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 242 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GTTCTATATCGTCAACCTCCT 0.527000 8 624 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 166 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195692347 195692347 + RNA SNP G G A rs62282794 by1000genomes TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr3:195692347G>A ENST00000427841.1 - 0 2155 NR_003264.2 TTCCTCCAGTGCTCCTCAAAG 0.572000 4 17 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64498737 64498737 + RNA SNP C C A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr7:64498737C>A ENST00000426828.1 + 0 0 NR_033416.1 gaggcggtggcggcggcggca 0.786000 4 13 1.23904e-05 1.39392e-05 1 1 0 SEMA3B 7869 broad.mit.edu 37 3 50311108 50311108 + RNA SNP A A G TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr3:50311108A>G ENST00000418948.1 + 0 1156 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGGGTTGGGGAGGGGGGCAGC 0.701000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 51 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 42 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99160855 99160855 + Missense_Mutation SNP G G A TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr10:99160855G>A ENST00000370992.4 - 1 245 c.134C>T c.(133-135)cCg>cTg p.P45L RRP12_ENST00000315563.6_Missense_Mutation_p.P45L|RRP12_ENST00000414986.1_Missense_Mutation_p.P45L NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 45 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GCTACCTGACGGCCGGCTGAA 0.682000 4 13 0 0 1 0 0 AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 4 9 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 5 2 --- --- --- --- LOXL3 84695 broad.mit.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-DJ-A3V9-01A-11D-A23M-08 TCGA-DJ-A3V9-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx baade73f-8f3c-429d-909a-7e617bebfff6 9c28bb06-bac1-433f-8fa5-ff1a88710057 g.chr2:74763923_74763924insC ENST00000264094.3 - 5 895_896 c.824_825insG c.(823-825)gccfs p.A275fs LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 275 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity p.A277fs*57(1) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CCACTGCAGGGCCCCCCCCAGG 0.649 7 144 --- --- --- ---