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 ABCA13 154664 broad.mit.edu 37 7 48321025 48321025 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr7:48321025G>A ENST00000435803.1 + 19 8836 c.8812G>A c.(8812-8814)Gta>Ata p.V2938I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2938 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GATGATGGTCGTACGTGTGCT 0.463000 4 10 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79434626 79434626 + Missense_Mutation SNP C C T rs140301017 TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr14:79434626C>T ENST00000554719.1 + 11 2451 c.1960C>T c.(1960-1962)Cgc>Tgc p.R654C NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 260 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) CTTGAATGGACGCCTGCCAGA 0.522000 18 34 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158223441 158223441 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr5:158223441G>A ENST00000313708.6 - 9 1103 c.821C>T c.(820-822)aCg>aTg p.T274M EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.T266M|EBF1_ENST00000380654.4_Missense_Mutation_p.T243M NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 274 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCTCCCGTCGTCCATCCTTC 0.468000 T HMGA2 lipoma 22 51 0 0 1 0 0 MBD5 0 broad.mit.edu 37 2 149221402 149221402 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr2:149221402G>A ENST00000407073.1 + 8 1308 c.311G>A c.(310-312)aGa>aAa p.R104K MBD5_ENST00000404807.1_Missense_Mutation_p.R104K NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 104 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATACATAAAAGAAAAATTATT 0.428000 26 33 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78351638 78351638 + Missense_Mutation SNP C C A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr5:78351638C>A ENST00000255189.3 - 3 398 c.370G>T c.(370-372)Ggt>Tgt p.G124C DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 124 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTACCTGACCAGTTTCTTCT 0.348000 4 15 0.150653 0.150653 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181702679 181702679 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr1:181702679G>A ENST00000526775.1 + 20 3163 c.2998G>A c.(2998-3000)Gtg>Atg p.V1000M CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1019M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1019M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V951M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V626M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V970M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1000M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1019 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.V1019M(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGGGAAGCACGTGGTGCTGAC 0.642000 15 20 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6197460 6197460 + Silent SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr6:6197460G>A ENST00000264870.3 - 9 1477 c.1212C>T c.(1210-1212)agC>agT p.S404S NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 404 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTTTACCATCGCTATTTTCCT 0.502000 4 40 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653362 159653362 + Silent SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr6:159653362G>A ENST00000297267.9 + 11 2018 c.1818G>A c.(1816-1818)acG>acA p.T606T FNDC1_ENST00000340366.6_Silent_p.T543T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 606 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCCTGGCCACGCAGCCCCGCC 0.701000 15 16 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7096281 7096281 + Nonsense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr17:7096281G>A ENST00000399510.2 - 19 2830 c.1978C>T c.(1978-1980)Cga>Tga p.R660* DLG4_ENST00000399506.2_Nonsense_Mutation_p.R617*|DLG4_ENST00000302955.6_Nonsense_Mutation_p.R614* NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 617 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCCACCTCTCGCACGGACTGG 0.612000 10 10 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86900300 86900300 + Missense_Mutation SNP T T G TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr1:86900300T>G ENST00000370565.4 + 6 1006 c.844T>G c.(844-846)Tct>Gct p.S282A NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 282 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AATCACAGACTCTGCTGACTT 0.483000 6 70 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673674 3673674 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr20:3673674G>A ENST00000344754.4 - 14 3612 c.3613C>T c.(3613-3615)Ctc>Ttc p.L1205F SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1205F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1205 Ig-like C2-type 12. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCGTGGCTGAGGGCCAGCTGG 0.706000 18 18 0 0 1 0 0 TUBB3 10381 broad.mit.edu 37 16 89999982 89999982 + Silent SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr16:89999982C>T ENST00000304984.5 + 2 2352 c.57C>T c.(55-57)atC>atT p.I19I TUBB3_ENST00000556922.1_Silent_p.I438I|TUBB3_ENST00000554336.1_Silent_p.I91I|TUBB3_ENST00000315491.7_Silent_p.I91I|TUBB3_ENST00000555576.1_Silent_p.I91I|TUBB3_ENST00000553967.1_Silent_p.I91I|TUBB3_ENST00000554444.1_Silent_p.I19I Q13509 TBB3_HUMAN tubulin, beta 3 class III 91 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) ACAATTTCATCTTTGGTAAGT 0.572000 33 17 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134379661 134379661 + Missense_Mutation SNP T T A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr9:134379661T>A ENST00000423007.1 + 2 498 c.56T>A c.(55-57)cTt>cAt p.L19H POMT1_ENST00000341012.7_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.L19H|POMT1_ENST00000402686.3_Missense_Mutation_p.L19H|POMT1_ENST00000372228.3_Missense_Mutation_p.L19H|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 19 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AACTTGAGCCTTGTGGCCCTG 0.557000 OREG0019563 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 117 0 0 1 0 0 C15orf40 123207 broad.mit.edu 37 15 83677356 83677356 + Missense_Mutation SNP A A G TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr15:83677356A>G ENST00000304177.5 - 3 343 c.229T>C c.(229-231)Tgt>Cgt p.C77R C15orf40_ENST00000451195.3_Missense_Mutation_p.C104R|C15orf40_ENST00000513601.2_Missense_Mutation_p.C104R|C15orf40_ENST00000538348.2_Missense_Mutation_p.C104R|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA NM_001160114.1|NM_144597.2 NP_001153586.1|NP_653198.2 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 77 large_intestine(3)|lung(2)|skin(1) 6 AGATACCGACAGAGCTCAGCA 0.428000 6 56 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97058500 97058500 + Missense_Mutation SNP G G T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr6:97058500G>T ENST00000326771.2 + 6 937 c.557G>T c.(556-558)tGt>tTt p.C186F FHL5_ENST00000541107.1_Missense_Mutation_p.C186F NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 186 LIM zinc-binding 3. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CATAAAGAGTGTTTTCTGTGT 0.443000 53 82 3.40343e-31 4.06931e-31 1 1 0 GLDC 2731 broad.mit.edu 37 9 6536172 6536172 + Silent SNP C C T rs144937031 byFrequency TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr9:6536172C>T ENST00000321612.6 - 23 2880 c.2730G>A c.(2728-2730)tcG>tcA p.S910S NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 910 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCTTGTCCTCCGACTCAGTGG 0.572000 4 22 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41135318 41135318 + Nonsense_Mutation SNP G G T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr19:41135318G>T ENST00000308370.7 + 34 4735 c.4735G>T c.(4735-4737)Gag>Tag p.E1579* LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.E1512*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.E1542*|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1580 EGF-like 16. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGAGTGTGATGAGGCCGAGGC 0.637000 13 47 1.5739e-10 1.80342e-10 1 1 0 HOXD9 3235 broad.mit.edu 37 2 176987556 176987556 + Nonsense_Mutation SNP C C A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr2:176987556C>A ENST00000249499.6 + 1 469 c.60C>A c.(58-60)taC>taA p.Y20* HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 20 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TCAGCAACTACTACGTGGACT 0.692000 6 13 3.59834e-05 3.80593e-05 1 1 0 LILRA4 23547 broad.mit.edu 37 19 54849922 54849922 + Missense_Mutation SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr19:54849922C>T ENST00000291759.4 - 3 156 c.100G>A c.(100-102)Gag>Aag p.E34K NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 34 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGACCTGGCTCGGCCCACAGG 0.572000 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 35 0 0 1 0 0 ATIC 471 broad.mit.edu 37 2 216189998 216189998 + Missense_Mutation SNP A A G TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr2:216189998A>G ENST00000435675.1 + 4 713 c.322A>G c.(322-324)Aca>Gca p.T108A ATIC_ENST00000540518.1_Missense_Mutation_p.T50A|ATIC_ENST00000236959.9_Missense_Mutation_p.T109A P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 109 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) CTTTGTAAAGACAGTGGCTTC 0.408000 T ALK ALCL 30 47 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560136 32560136 + Silent SNP A A G TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr14:32560136A>G ENST00000345122.3 + 2 576 c.261A>G c.(259-261)gaA>gaG p.E87E ARHGAP5_ENST00000539826.2_Silent_p.E87E|ARHGAP5_ENST00000556611.1_Silent_p.E87E|ARHGAP5_ENST00000432921.1_Silent_p.E87E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 87 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATGGAGTAGAATGCAAAATTC 0.388000 4 66 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14801770 14801770 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr9:14801770G>A ENST00000380881.4 - 21 4392 c.3577C>T c.(3577-3579)Cgc>Tgc p.R1193C FREM1_ENST00000380880.3_Missense_Mutation_p.R1192C|FREM1_ENST00000422223.2_Missense_Mutation_p.R1192C Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1192 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGGCCATGGCGTGGCTTTTGA 0.527000 30 41 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152652494 152652494 + Silent SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr6:152652494G>A ENST00000367255.5 - 78 13927 c.13326C>T c.(13324-13326)ggC>ggT p.G4442G SYNE1_ENST00000341594.5_Silent_p.G4307G|SYNE1_ENST00000265368.4_Silent_p.G4442G|SYNE1_ENST00000448038.1_Silent_p.G4371G|SYNE1_ENST00000423061.1_Silent_p.G4371G NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4442 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTTCGCTGGCCCACTAAGT 0.493000 HNSCC(10;0.0054) 23 43 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3205573 3205573 + Missense_Mutation SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr8:3205573C>T ENST00000602557.1 - 23 3973 c.3418G>A c.(3418-3420)Ggc>Agc p.G1140S CSMD1_ENST00000542608.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1140S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1139S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1140S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1140S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1140 CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATGCCCTTGCCGGCTTCTGTT 0.378000 11 12 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28218558 28218558 + Silent SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr8:28218558G>A ENST00000344423.5 - 2 215 c.84C>T c.(82-84)ccC>ccT p.P28P ZNF395_ENST00000523202.1_Silent_p.P28P|ZNF395_ENST00000523095.1_Silent_p.P28P NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 28 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGCAGCCGAGGGCCCCTCCG 0.682000 3 35 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276861 71276861 + Silent SNP T T C rs36179995 TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr11:71276861T>C ENST00000398531.1 + 1 253 c.228T>C c.(226-228)tcT>tcC p.S76S KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 76 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACTGTGGCTCTTGTGGGGGCT 0.677000 5 178 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 4 117 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126730864 126730864 + Missense_Mutation SNP A A C TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr3:126730864A>C ENST00000251772.4 + 9 2176 c.2107A>C c.(2107-2109)Acc>Ccc p.T703P PLXNA1_ENST00000393409.2_Missense_Mutation_p.T726P Q9UIW2 PLXA1_HUMAN plexin A1 726 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.T703P(2) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AAAACCCATCACCCTGGCCGC 0.652000 7 44 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158608028 158608028 + Missense_Mutation SNP C C A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr1:158608028C>A ENST00000368148.3 - 36 5164 c.4984G>T c.(4984-4986)Gca>Tca p.A1662S SPTA1_ENST00000368147.3_Missense_Mutation_p.A1662S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1662 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCTTGAGTGCATCCTAGAAA 0.428000 18 38 2.35188e-11 2.7522e-11 1 1 0 TRPM1 4308 broad.mit.edu 37 15 31355425 31355425 + Missense_Mutation SNP C C A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr15:31355425C>A ENST00000542188.1 - 7 1225 c.912G>T c.(910-912)ttG>ttT p.L304F TRPM1_ENST00000397795.2_Missense_Mutation_p.L265F|TRPM1_ENST00000256552.6_Missense_Mutation_p.L287F NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 265 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GCAGGTATTCCAAGACGATGG 0.587000 3 31 0.00909568 0.00926412 1 1 0 PPP2CB 5516 broad.mit.edu 37 8 30655146 30655146 + Missense_Mutation SNP A A C TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr8:30655146A>C ENST00000221138.4 - 3 887 c.437T>G c.(436-438)tTt>tGt p.F146C PPP2CB_ENST00000518564.1_Intron NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 146 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) GAGATCTGTAAAATATTTCCA 0.378000 7 61 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958074 49958074 + Missense_Mutation SNP C C A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chrX:49958074C>A ENST00000376056.2 - 5 1413 c.1263G>T c.(1261-1263)ttG>ttT p.L421F AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.L421F|AKAP4_ENST00000358526.2_Missense_Mutation_p.L430F Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 430 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GGGCACTGACCAAGCGCTTCA 0.458000 53 9 9.86064e-34 1.20519e-33 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 3 34 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22414907 22414907 + Silent SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr4:22414907G>A ENST00000334304.5 - 14 2399 c.2130C>T c.(2128-2130)aaC>aaT p.N710N GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 710 GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTCCTTGTCCGTTCAGCAAAT 0.453000 4 85 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 41 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50227748 50227748 + Missense_Mutation SNP C C T rs141399513 byFrequency TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr10:50227748C>T ENST00000332853.3 - 8 933 c.910G>A c.(910-912)Gcc>Acc p.A304T NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 304 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CTGGTGGGGGCGCCTTTGGCA 0.493000 22 23 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139095001 139095001 + Missense_Mutation SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr6:139095001C>T ENST00000332797.6 + 1 345 c.190C>T c.(190-192)Cgg>Tgg p.R64W NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 64 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CGGGTCTTTGCGGGTTGCGGA 0.617000 4 126 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8132109 8132109 + Missense_Mutation SNP A A C TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr17:8132109A>C ENST00000315684.8 - 21 3330 c.3323T>G c.(3322-3324)cTa>cGa p.L1108R NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1108 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GACGAAATCTAGGAGGGAGGC 0.597000 4 10 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14884750 14884750 + Splice_Site SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr19:14884750C>T ENST00000315576.3 - 4 650 c.199_splice c.e4+1 p.D67_splice EMR2_ENST00000392965.3_Splice_Site_p.D67_splice|EMR2_ENST00000601345.1_Splice_Site_p.D67_splice|EMR2_ENST00000594076.1_Splice_Site_p.D67_splice|EMR2_ENST00000392967.2_Splice_Site_p.D67_splice|EMR2_ENST00000353876.1_Splice_Site_p.D67_splice|EMR2_ENST00000346057.1_Splice_Site_p.D67_splice|EMR2_ENST00000594294.1_Splice_Site_p.D67_splice|EMR2_ENST00000353005.1_Splice_Site_p.D67_splice|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Splice_Site_p.D67_splice|EMR2_ENST00000596991.2_Splice_Site_p.D67_splice NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 67 EGF-like 2; calcium-binding. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.D67N(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GCCTCTGTACCGTCACAAGTC 0.582000 4 121 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55337177 55337177 + Missense_Mutation SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr1:55337177C>T ENST00000371269.3 - 5 820 c.722G>A c.(721-723)cGt>cAt p.R241H DHCR24_ENST00000535035.1_Missense_Mutation_p.R200H|DHCR24_ENST00000537443.1_Missense_Mutation_p.R73H NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 241 anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 TGGCTCGAAACGCAGCTTGAC 0.607000 16 7 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50869343 50869343 + Missense_Mutation SNP A A C TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr12:50869343A>C ENST00000398473.2 + 16 1983 c.1871A>C c.(1870-1872)cAg>cCg p.Q624P LARP4_ENST00000429001.3_Missense_Mutation_p.Q630P|LARP4_ENST00000518444.1_Missense_Mutation_p.Q623P|LARP4_ENST00000347328.5_Missense_Mutation_p.Q553P|LARP4_ENST00000293618.8_Missense_Mutation_p.Q553P NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 624 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GAAGTGTGCCAGAAGCCCCCT 0.398000 13 259 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584019 42584019 + Missense_Mutation SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr19:42584019C>T ENST00000600245.1 + 2 1916 c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S ZNF574_ENST00000359044.4_Missense_Mutation_p.P421S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P511S|CTB-59C6.3_ENST00000594531.1_RNA Q6ZN55 ZN574_HUMAN zinc finger protein 574 421 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) TGTCCCTCTGCCCACAACACC 0.577000 23 36 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94732161 94732161 + Missense_Mutation SNP G G A TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr14:94732161G>A ENST00000304338.3 + 22 2469 c.2315G>A c.(2314-2316)cGa>cAa p.R772Q NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 772 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AAACTGATTCGAAGCCAGTCT 0.363000 39 65 0 0 1 0 0 IL8 0 broad.mit.edu 37 4 74606394 74606394 + Missense_Mutation SNP G G T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr4:74606394G>T ENST00000307407.3 + 1 172 c.19G>T c.(19-21)Gtg>Ttg p.V7L IL8_ENST00000401931.1_Missense_Mutation_p.V7L NM_000584.3 NP_000575.1 P10145 IL8_HUMAN interleukin 8 7 angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication extracellular space|intracellular chemokine activity|interleukin-8 receptor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 6 Breast(15;0.00102) all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) LUSC - Lung squamous cell carcinoma(721;0.008) Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744) CAAGCTGGCCGTGGCTCTCTT 0.488000 8 117 1.58986e-06 1.71456e-06 1 1 0 AKAP1 8165 broad.mit.edu 37 17 55183580 55183580 + Missense_Mutation SNP A A C TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr17:55183580A>C ENST00000337714.3 + 2 988 c.755A>C c.(754-756)cAg>cCg p.Q252P AKAP1_ENST00000571629.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q252P|AKAP1_ENST00000314126.3_Missense_Mutation_p.Q252P NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 252 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AGCTCATCCCAGGTGGTGGGG 0.567000 22 38 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080681 126080681 + Silent SNP C C T TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr6:126080681C>T ENST00000368364.3 + 5 944 c.747C>T c.(745-747)tgC>tgT p.C249C HEY2_ENST00000368365.1_Silent_p.C203C NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 249 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) TCGCCCCCTGCGTGCCACCTC 0.672000 37 157 0 0 1 0 0 HPCA 3208 broad.mit.edu 37 1 33359401 33359401 + Frame_Shift_Del DEL A A - TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr1:33359401delA ENST00000373467.3 + 4 622 c.520delA c.(520-522)aafs p.K174fs NM_002143.2 NP_002134.2 P84074 HPCA_HUMAN hippocalcin 174 EF-hand 4. actin binding|calcium ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CCGCGGGGCCAAAAGCGACCC 0.692 2 4 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233792687 233792687 + Frame_Shift_Del DEL A A - TCGA-ZG-A9LZ-01A-11D-A41K-08 TCGA-ZG-A9LZ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 678b42ec-7932-47a8-98df-39f5d25b7562 4194550d-f14a-484d-85d6-a2a15cd7a2ad g.chr2:233792687delA ENST00000373552.4 - 1 177 c.23delT c.(22-24)tcfs p.F8fs NGEF_ENST00000409079.1_Frame_Shift_Del_p.F8fs|NGEF_ENST00000264051.3_Intron NM_001114090.1 NP_001107562.1 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 0 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGCGGCGCTGAAGGCAGCGGC 0.781 2 4 --- --- --- ---