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 NRXN3 9369 broad.mit.edu 37 14 79933743 79933743 + Missense_Mutation SNP A A T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr14:79933743A>T uc001xun.3 + 12 2814 c.2323A>T c.(2323-2325)Ata>Tta p.I775L NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.I143L|NRXN3_uc010asw.3_Missense_Mutation_p.I143L|NRXN3_uc001xur.4_Missense_Mutation_p.I143L NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 143 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCAGCTTCACATAGTGAGTAC 0.512000 20 93 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114196558 114196558 + Silent SNP C C A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:114196558C>A uc001edk.3 + 14 2728 c.2547C>A c.(2545-2547)ccC>ccA p.P849P MAGI3_uc001edh.3_Silent_p.P874P|MAGI3_uc001edi.4_Silent_p.P849P|MAGI3_uc010owm.2_Silent_p.P874P|MAGI3_uc001edj.3_Silent_p.P570P NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 874 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCAGGAGCCCTATGATGTTG 0.522000 5 429 0 0 1 0 0 EIF2C2 27161 broad.mit.edu 37 8 141549494 141549494 + Silent SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr8:141549494G>A uc003yvn.3 - 15 2135 c.2094C>T c.(2092-2094)taC>taT p.Y698Y EIF2C2_uc010meo.3_Silent_p.Y698Y|EIF2C2_uc010men.3_Silent_p.Y621Y NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 698 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TCCCGGGCTGGTAGTCTTTTT 0.557000 11 105 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26465519 26465519 + Missense_Mutation SNP A A T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr6:26465519A>T uc003nib.2 + 4 1067 c.819A>T c.(817-819)caA>caT p.Q273H BTN2A1_uc021yni.1_Missense_Mutation_p.Q273H|BTN2A1_uc003nic.2_Missense_Mutation_p.Q273H|BTN2A1_uc011dko.2_Missense_Mutation_p.Q212H NM_007049 NP_001184162 Q7KYR7 BT2A1_HUMAN Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA. 273 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 ACAAACTCCAAAAGGAAAAAA 0.433000 11 166 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27425124 27425124 + Splice_Site SNP T T G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr17:27425124T>G uc002hdt.1 - 25 4148 c.3990_splice c.e25+1 p.Q1330_splice MYO18A_uc010wbc.1_Splice_Site_p.Q872_splice|MYO18A_uc002hds.2_Splice_Site_p.Q872_splice|MYO18A_uc010csa.1_Splice_Site_p.Q1330_splice|MYO18A_uc002hdu.1_Splice_Site_p.Q1330_splice|MYO18A_uc010wbd.1_Splice_Site_p.Q999_splice NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 1330 DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGCCCTCACCTGCAGTTCCTT 0.612000 10 249 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205814502 205814502 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:205814502T>C uc001hdj.3 - 2 516 c.440A>G c.(439-441)gAt>gGt p.D147G PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 147 extracellular region metal ion binding|peptidase activity p.R146C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GATGATGCCATCACGCTCCAA 0.567000 4 172 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120598 193120598 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr3:193120598T>C uc003ftd.3 - 29 3542 c.3434A>G c.(3433-3435)tAt>tGt p.Y1145C ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 1145 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.G1144D(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTTTGACTGATAGCCGAAACA 0.443000 3 71 0 0 1 0 0 TM2D3 80213 broad.mit.edu 37 15 102182710 102182710 + Missense_Mutation SNP C C T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:102182710C>T uc002bxi.3 - 5 746 c.716G>A c.(715-717)gGa>gAa p.G239E TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.3_Missense_Mutation_p.G174E|TM2D3_uc002bxj.3_Missense_Mutation_p.G213E NM_078474 NP_510883 Q9BRN9 TM2D3_HUMAN Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA. 239 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCTGCTGGTCCAACATAGCC 0.537000 8 178 0 0 1 0 0 CD48 962 broad.mit.edu 37 1 160651146 160651146 + Silent SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:160651146A>G uc001fwo.1 - 2 530 c.498T>C c.(496-498)taT>taC p.Y166Y CD48_uc001fwn.3_Silent_p.Y166Y NM_001778 NP_001769 P09326 CD48_HUMAN Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA. 166 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTTTGTCCCCATACCAGGTGT 0.448000 4 230 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1686902 1686902 + Missense_Mutation SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:1686902G>A uc001aie.3 - 8 1239 c.1034C>T c.(1033-1035)cCg>cTg p.P345L NADK_uc001aic.3_Missense_Mutation_p.P200L|NADK_uc001aid.4_Missense_Mutation_p.P200L|NADK_uc010nyv.2_Missense_Mutation_p.P168L|NADK_uc009vkx.1_Missense_Mutation_p.P78L NM_001198994 NP_001185923 O95544 NADK_HUMAN Homo sapiens NAD kinase (NADK), transcript variant 3, mRNA. 200 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|NAD+ kinase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) GGCCATGACCGGAGGGACGCT 0.617000 4 195 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455622 5455622 + Silent SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr19:5455622G>A uc002mca.4 + 0 197 c.120G>A c.(118-120)agG>agA p.R40R NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. 40 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTGGCCACAGGCCCCCTGGGA 0.657000 4 79 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140745315 140745315 + Missense_Mutation SNP C C G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr5:140745315C>G uc003lju.2 + 0 1418 c.1418C>G c.(1417-1419)tCt>tGt p.S473C PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.S473C NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 475 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTATCTTCTCTGTGACAGCC 0.532000 16 275 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33215004 33215004 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr10:33215004G>C uc001iwr.4 - 4 581 c.581C>G c.(580-582)cCt>cGt p.P194R ITGB1_uc001iws.4_Missense_Mutation_p.P194R|ITGB1_uc001iwt.4_Missense_Mutation_p.P194R NM_033668 NP_391988 P05556 ITB1_HUMAN Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA. 194 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GCTAATGTAAGGCATCACAGT 0.403000 6 108 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43816306 43816306 + Missense_Mutation SNP C C A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:43816306C>A uc001zrt.3 + 3 3102 c.2635C>A c.(2635-2637)Cgt>Agt p.R879S NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 879 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCCTTCCTCCCGTACTGAAGC 0.562000 5 109 0 0 1 0 0 STX4 6810 broad.mit.edu 37 16 31050875 31050875 + Missense_Mutation SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr16:31050875A>G uc002eal.3 + 8 940 c.716A>G c.(715-717)aAt>aGt p.N239S STX4_uc002eak.3_Missense_Mutation_p.N237S|STX4_uc002eam.3_Missense_Mutation_p.N161S|BC039500_uc002ean.1_5'Flank NM_004604 NP_004595 Q12846 STX4_HUMAN Homo sapiens syntaxin 4 (STX4), mRNA. 239 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 GAGATGATCAATCGGATTGAG 0.567000 7 145 0 0 1 0 0 NBN 4683 broad.mit.edu 37 8 90958472 90958472 + Silent SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr8:90958472A>G uc003yej.1 - 12 2076 c.1966T>C c.(1966-1968)Ttg>Ctg p.L656L NBN_uc011lgb.1_Silent_p.L656L|NBN_uc003yei.1_Silent_p.L574L NM_002485 NP_002476 O60934 NBN_HUMAN Homo sapiens nibrin (NBN), mRNA. 656 DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATTCAGTCAATAACAGCTTT 0.318000 Homologous recombination 4 146 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13971268 13971268 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr7:13971268G>C uc021zzz.1 - 6 748 c.661C>G c.(661-663)Ccc>Gcc p.P221A ETV1_uc021zzt.1_Missense_Mutation_p.P181A|ETV1_uc021zzu.1_Missense_Mutation_p.P118A|ETV1_uc021zzv.1_Missense_Mutation_p.P163A|ETV1_uc021zzw.1_Missense_Mutation_p.P181A|ETV1_uc021zzx.1_Missense_Mutation_p.P118A|ETV1_uc021zzy.1_Missense_Mutation_p.P163A|ETV1_uc022aaa.1_Missense_Mutation_p.P203A|ETV1_uc022aab.1_Missense_Mutation_p.P221A|ETV1_uc003ssw.4_Missense_Mutation_p.P221A|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P203A|ETV1_uc022aad.1_Missense_Mutation_p.P203A|ETV1_uc010ktv.3_Missense_Mutation_p.P90A NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 221 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTGGGAAGGGGATGTTTGGC 0.552000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 5 58 0 0 1 0 0 MBOAT2 129642 broad.mit.edu 37 2 9083336 9083336 + Missense_Mutation SNP T T C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr2:9083336T>C uc002qzg.1 - 2 412 c.279A>G c.(277-279)atA>atG p.I93M MBOAT2_uc010yix.1_Missense_Mutation_p.I93M NM_138799 NP_620154 Q6ZWT7 MBOA2_HUMAN Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA. 93 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTCCACTCCTATGATGATCA 0.318000 3 105 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70505149 70505149 + Silent SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr4:70505149G>A uc011caq.2 - 2 929 c.813C>T c.(811-813)atC>atT p.I271I UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Silent_p.I70I|UGT2A1_uc021xox.1_Silent_p.I70I|UGT2A1_uc010iht.3_Intron NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 61 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GATTGGAGTTGATGAATAGAG 0.358000 8 133 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74659919 74659919 + Missense_Mutation SNP G G C TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr15:74659919G>C uc002axt.2 - 0 163 c.8C>G c.(7-9)gCc>gGc p.A3G CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.A3G NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 3 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) AAGACCCTTGGCCAGCATGCT 0.627000 9 38 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61417450 61417450 + Missense_Mutation SNP A A G TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr2:61417450A>G uc002sbe.3 - 77 9851 c.9829T>C c.(9829-9831)Tcc>Ccc p.S3277P USP34_uc002sbd.3_Missense_Mutation_p.S79P NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 3277 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACTCGGTTGGAGAAATCAGAC 0.408000 3 148 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111933176 111933176 + Missense_Mutation SNP C C T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr11:111933176C>T uc001pmo.3 + 13 2520 c.1861C>T c.(1861-1863)Cgg>Tgg p.R621W DLAT_uc010rwr.2_Missense_Mutation_p.R494W|DLAT_uc021qqn.1_Missense_Mutation_p.R565W NM_001931 NP_001922 P10515 ODP2_HUMAN Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA. 621 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) TTGTGATCACCGGGTGGTGGA 0.388000 4 212 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478100 42478100 + Missense_Mutation SNP C C T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr17:42478100C>T uc002igw.2 - 7 1564 c.1345G>A c.(1345-1347)Gca>Aca p.A449T GPATCH8_uc002igv.2_Missense_Mutation_p.A371T|GPATCH8_uc010wiz.2_Missense_Mutation_p.A371T NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 449 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGGCTTGCTGCCGCCTTGATG 0.502000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 296 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133753888 133753888 + Missense_Mutation SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr9:133753888G>A uc004bzv.3 + 7 1853 c.1414G>A c.(1414-1416)Gag>Aag p.E472K ABL1_uc004bzw.3_Missense_Mutation_p.E453K NM_007313 NP_009297 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant b, mRNA. 453 Protein kinase. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding p.E453Q(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TGAGCTGCTAGAGAAGGACTA 0.507000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 5 303 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 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 32 63 0 0 1 0 0 TRIP10 9322 broad.mit.edu 37 19 6741105 6741105 + Missense_Mutation SNP G G A TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr19:6741105G>A uc002mfs.3 + 1 175 c.109G>A c.(109-111)Gaa>Aaa p.E37K TRIP10_uc010dux.2_Missense_Mutation_p.E37K|TRIP10_uc002mfr.3_Missense_Mutation_p.E37K|TRIP10_uc010duy.3_Non-coding_Transcript NM_004240 NP_004231 Q15642 CIP4_HUMAN Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA. 37 FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 AGAACGCACCGAAGTGGAACA 0.627000 4 100 0 0 1 0 0 LRRC42 115353 broad.mit.edu 37 1 54426067 54426067 + Missense_Mutation SNP A A T TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr1:54426067A>T uc001cwj.1 + 3 844 c.644A>T c.(643-645)gAt>gTt p.D215V LRRC42_uc001cwk.1_Missense_Mutation_p.D215V NM_052940 NP_443172 Q9Y546 LRC42_HUMAN Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA. 215 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 TGTTTATCTGATGCTGGGGTG 0.368000 22 140 0 0 1 0 0 HMGB1 3146 broad.mit.edu 37 13 31035567 31035569 + In_Frame_Del DEL TCC TCC - TCGA-EL-A3GY-01A-21D-A202-08 TCGA-EL-A3GY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7977f37-60b9-4d9e-b928-0ac02f1a17e8 a35c71ab-41c7-4fe3-b279-71cbd8449992 g.chr13:31035567_31035569delTCC uc001usz.3 - 4 745_747 c.573_575delGGA c.(571-576)gaggaa>gaa p.191_192EE>E HMGB1_uc001usv.3_3'UTR|HMGB1_uc001usx.3_In_Frame_Del_p.191_192EE>E|HMGB1_uc001usy.3_In_Frame_Del_p.152_153EE>E|HMGB1_uc001uta.1_3'UTR NM_002128 NP_002119 P09429 HMGB1_HUMAN Homo sapiens high mobility group box 1 (HMGB1), mRNA. 191 Asp/Glu-rich (acidic). DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) ctcttcatcttcctcatcttcct 0.399 4 4 --- --- --- ---