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 KIF23 9493 broad.mit.edu 37 15 69708349 69708349 + Missense_Mutation SNP C C T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr15:69708349C>T uc002asb.3 + 1 206 c.28C>T c.(28-30)Cgg>Tgg p.R10W KIF23_uc002asc.3_Missense_Mutation_p.R10W|KIF23_uc010bii.3_5'UTR|KIF23_uc010bih.2_Non-coding_Transcript NM_138555 NP_612565 Q02241 KIF23_HUMAN Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA. 10 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TAAGACACCCCGGAAACCTAC 0.363000 3 16 0 0 1 0 0 GPKOW 27238 broad.mit.edu 37 X 48974115 48974115 + Missense_Mutation SNP C C A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chrX:48974115C>A uc004dmr.3 - 4 623 c.616G>T c.(616-618)Ggt>Tgt p.G206C NM_015698 NP_056513 Q92917 GPKOW_HUMAN Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA. 206 G-patch. nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 AGGTTGGCACCCAGCCCTAAC 0.572000 3 12 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894210 10894210 + Missense_Mutation SNP A A T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr6:10894210A>T uc003mzo.3 + 2 485 c.189A>T c.(187-189)ttA>ttT p.L63F SYCP2L_uc011dim.1_Non-coding_Transcript NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 63 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) GTCTTCTATTATACCGTCTTG 0.294000 7 24 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30687676 30687676 + Missense_Mutation SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr17:30687676G>A uc010csz.3 + 4 723 c.376G>A c.(376-378)Gcc>Acc p.A126T ZNF207_uc002hhj.4_Missense_Mutation_p.A123T|ZNF207_uc002hhh.4_Missense_Mutation_p.A123T|ZNF207_uc002hhi.4_Missense_Mutation_p.A123T|ZNF207_uc002hhk.1_Missense_Mutation_p.A123T|ZNF207_uc002hhl.1_Non-coding_Transcript O43670 ZN207_HUMAN Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA. 123 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) CGACTCTGCAGCCTCAACTTC 0.398000 3 32 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9965966 9965966 + Silent SNP C C T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr3:9965966C>T uc003bua.3 + 8 1244 c.1026C>T c.(1024-1026)ctC>ctT p.L342L CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.L246L|IL17RC_uc003btz.3_Silent_p.L271L|IL17RC_uc011atp.2_Silent_p.L127L|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.L271L|IL17RC_uc010hcu.3_Silent_p.L271L|IL17RC_uc003bub.3_Silent_p.L256L|IL17RC_uc010hcv.3_Silent_p.L256L|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.L256L NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA. 342 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TTCCCTGCCTCTGTATTCAGG 0.507000 3 17 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101558994 101558994 + Missense_Mutation SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr10:101558994G>A uc001kqf.2 + 7 1037 c.898G>A c.(898-900)Ggg>Agg p.G300R NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 300 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAAGAAGTCTGGGACCAAAAA 0.418000 22 165 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120263094 120263094 + Missense_Mutation SNP C C T TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr12:120263094C>T uc001txj.2 - 7 888 c.832G>A c.(832-834)Ggc>Agc p.G278S CIT_uc001txi.2_Missense_Mutation_p.G278S NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 278 Protein kinase. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCGTAGGTGCCTTTTCCATCC 0.527000 6 74 0 0 1 0 0 SLC35D2 11046 broad.mit.edu 37 9 99113432 99113432 + Silent SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr9:99113432G>A uc004awc.3 - 5 517 c.441C>T c.(439-441)atC>atT p.I147I SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.I147I NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA. 147 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) CACTGAGGATGATGTTGAGTG 0.353000 14 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 17 44 0 0 1 0 0 RIOK1 83732 broad.mit.edu 37 6 7393347 7393347 + Missense_Mutation SNP G G C TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr6:7393347G>C uc003mxn.3 + 1 261 c.87G>C c.(85-87)ttG>ttC p.L29F RIOK1_uc003mxm.1_5'UTR NM_031480 NP_694550 Q9BRS2 RIOK1_HUMAN Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA. 29 ATP binding|protein serine/threonine kinase activity p.L22F(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ACAGAGACTTGAAGACAGTCA 0.333000 4 46 0 0 1 0 0 DRAM1 55332 broad.mit.edu 37 12 102314992 102314992 + Splice_Site SNP A A G TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr12:102314992A>G uc001tix.3 + 7 1136 c.673_splice c.e7-2 p.S225_splice DRAM1_uc010svv.2_Splice_Site_p.S115_splice NM_018370 NP_060840 Q8N682 DRAM1_HUMAN Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA. 225 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TTTTAAAAATAGAGTGTCACC 0.373000 6 87 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81592023 81592023 + Missense_Mutation SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr15:81592023G>A uc010unp.2 + 13 2508 c.2482G>A c.(2482-2484)Gct>Act p.A828T IL16_uc010blq.1_Missense_Mutation_p.A740T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc002bgg.3_Missense_Mutation_p.A786T|IL16_uc021ssh.1_Missense_Mutation_p.A786T|IL16_uc002bgi.1_Missense_Mutation_p.A176T|IL16_uc002bgj.3_Missense_Mutation_p.A280T|IL16_uc021ssi.1_Missense_Mutation_p.A85T|IL16_uc002bgl.1_Missense_Mutation_p.A85T|IL16_uc010unq.1_Missense_Mutation_p.A85T NM_172217 NP_001165599 Q14005 IL16_HUMAN Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA. 786 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TCCTCCTGTGGCTCCCAAGCC 0.572000 11 49 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17432134 17432134 + Silent SNP G G A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr11:17432134G>A uc001mnc.3 - 21 2749 c.2623C>T c.(2623-2625)Ctg>Ttg p.L875L NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 875 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCCCGGAGCAGCTCAAGGATG 0.562000 6 83 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122131017 122131017 + Missense_Mutation SNP C C A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr5:122131017C>A uc003kte.3 + 1 214 c.165C>A c.(163-165)aaC>aaA p.N55K SNX2_uc011cwn.2_5'UTR NM_003100 NP_003091 O60749 SNX2_HUMAN Homo sapiens sorting nexin 2 (SNX2), mRNA. 55 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) TTAGTGCAAACTCCAATGGCC 0.353000 4 85 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51664942 51664942 + Missense_Mutation SNP C C A TCGA-EL-A3CM-01A-11D-A19J-08 TCGA-EL-A3CM-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450 5a04fb3c-932a-4d0e-8f09-456a60b6739d g.chr3:51664942C>A uc011bdt.2 + 5 945 c.820C>A c.(820-822)Cat>Aat p.H274N RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA. 274 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGTGAAACCTCATCAGGTACA 0.512000 10 26 0 0 1 0 0