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 TCERG1 10915 broad.mit.edu 37 5 145890177 145890177 + Nonsense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr5:145890177C>A ENST00000296702.5 + 22 3307 c.3269C>A c.(3268-3270)tCg>tAg p.S1090* TCERG1_ENST00000394421.2_Nonsense_Mutation_p.S1069* NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 1090 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity p.S1090*(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCACAGCATCGGAGCCCACG 0.463000 3 97 0.115264 0.121494 0.115264 1 0 RCBTB2 1102 broad.mit.edu 37 13 49076874 49076874 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr13:49076874C>A ENST00000344532.3 - 11 1526 c.1103G>T c.(1102-1104)cGc>cTc p.R368L RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 368 Ran guanyl-nucleotide exchange factor activity p.R368L(1) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GGAGAGGAGGCGCCACGTGAC 0.577000 15 106 5.3912e-06 6.37142e-06 0.539581 1 0 PXDNL 137902 broad.mit.edu 37 8 52320734 52320734 + Silent SNP G G T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr8:52320734G>T ENST00000356297.4 - 17 3550 c.3450C>A c.(3448-3450)atC>atA p.I1150I PXDNL_ENST00000543296.1_Silent_p.I1150I NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1150 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.I349I(1)|p.I1150I(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATATGGTGGGATCCCGTGGT 0.448000 20 163 1.96292e-10 2.46948e-10 0.592651 1 0 HRNR 388697 broad.mit.edu 37 1 152192307 152192307 + Missense_Mutation SNP G G T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:152192307G>T ENST00000368801.2 - 3 1873 c.1798C>A c.(1798-1800)Cac>Aac p.H600N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 600 keratinization calcium ion binding|protein binding p.H600N(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGATCCGTGTTGACCGTAG 0.557000 47 427 9.52127e-25 1.23776e-24 0.870114 1 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 3 69 0 0 0.184627 0 0 CD109 135228 broad.mit.edu 37 6 74491004 74491004 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr6:74491004C>A ENST00000437994.2 + 17 2356 c.1925C>A c.(1924-1926)aCa>aAa p.T642K CD109_ENST00000287097.5_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 642 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.T642K(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGGTATTGACAGATGCAAAC 0.318000 3 72 0.004672 0.00520594 0.115264 1 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 6 49 0 0 0.307466 0 0 KPRP 448834 broad.mit.edu 37 1 152733157 152733157 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:152733157G>A ENST00000368773.1 + 2 1151 c.1093G>A c.(1093-1095)Gcc>Acc p.A365T KPRP_ENST00000606109.1_Missense_Mutation_p.A365T NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 365 Pro-rich. cytoplasm p.A365T(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCTGGGGCGCCTCCTGCCC 0.662000 10 79 0 0 0.335167 0 0 ARID2 196528 broad.mit.edu 37 12 46243943 46243943 + Missense_Mutation SNP A A T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr12:46243943A>T ENST00000334344.6 + 15 2209 c.2037A>T c.(2035-2037)caA>caT p.Q679H ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 679 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Q679H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CTGTGGCACAAACTGTTTCAA 0.413000 """N, S, F""" hepatocellular carcinoma 17 125 0 0 0.500413 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 6 79 0 0 0.217242 0 0 RASA3 22821 broad.mit.edu 37 13 114780695 114780695 + Silent SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr13:114780695C>T ENST00000334062.7 - 14 1516 c.1395G>A c.(1393-1395)aaG>aaA p.K465K RASA3_ENST00000389544.4_Silent_p.K433K NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 465 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity p.K465K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CCTGGAAGCGCTTGGCCGCCG 0.627000 5 145 0 0 0.184627 0 0 COL17A1 1308 broad.mit.edu 37 10 105798253 105798253 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr10:105798253G>A ENST00000353479.5 - 45 3271 c.2981C>T c.(2980-2982)cCg>cTg p.P994L COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 994 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.P994L(2) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCCTGGCGGGCCTGACAC 0.597000 23 165 0 0 0.608945 0 0 NR6A1 2649 broad.mit.edu 37 9 127316735 127316735 + Missense_Mutation SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr9:127316735C>T ENST00000487099.2 - 3 414 c.257G>A c.(256-258)cGg>cAg p.R86Q NR6A1_ENST00000373584.3_Missense_Mutation_p.R82Q|NR6A1_ENST00000344523.4_Missense_Mutation_p.R86Q|NR6A1_ENST00000416460.2_Missense_Mutation_p.R82Q NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 86 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.R86Q(1) NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GCAAATGCTCCGCTTGAAAAA 0.527000 12 111 0 0 0.387290 0 0 MKLN1 4289 broad.mit.edu 37 7 131172449 131172449 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr7:131172449C>A ENST00000352689.6 + 18 2210 c.2170C>A c.(2170-2172)Cct>Act p.P724T MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 724 signal transduction cytoplasm protein binding p.P724T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) CAGCATGACTCCTCCTAAAGG 0.433000 12 56 0.0809354 0.08768 0.387290 1 0 ZNF585B 92285 broad.mit.edu 37 19 37677246 37677246 + Missense_Mutation SNP G G C TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr19:37677246G>C ENST00000532828.2 - 5 1444 c.1193C>G c.(1192-1194)aCa>aGa p.T398R CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.T398R(1) NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGATGCACTGTGAGTGCTGA 0.413000 3 91 0 0 0.115264 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 3 75 0 0 0.184627 0 0 RASGRF1 5923 broad.mit.edu 37 15 79291122 79291122 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr15:79291122C>A ENST00000419573.3 - 19 3114 c.2840G>T c.(2839-2841)cGc>cTc p.R947L RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163L|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931L|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 949 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.R947L(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGCTGCTCTGCGGATCACAAA 0.612000 13 69 4.3838e-07 5.34276e-07 0.435327 1 0 WASH2P 0 broad.mit.edu 37 2 114356221 114356221 + RNA SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr2:114356221C>T ENST00000538033.2 + 0 2401 GTGAGGGGCCCGGAGGAGCCT 0.657000 3 5 0 0 0.115264 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 6 80 0 0 0.217242 0 0 PSMD7 5713 broad.mit.edu 37 16 74336163 74336163 + Silent SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr16:74336163G>A ENST00000219313.4 + 5 551 c.411G>A c.(409-411)gcG>gcA p.A137A PSMD7_ENST00000540379.1_Silent_p.A60A|PSMD7_ENST00000567958.1_Silent_p.A137A|PSMD7_ENST00000568615.2_Silent_p.A137A NM_002811.4 NP_002802.2 P51665 PSD7_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 137 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding p.A137A(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 15 CTACAGAAGCGTACATTTCAG 0.433000 11 116 0 0 0.411799 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668379 176668379 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:176668379G>A ENST00000367662.3 + 8 4054 c.2890G>A c.(2890-2892)Gac>Aac p.D964N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 964 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.D964N(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGTCCAAGCCGACACCCTCAC 0.577000 23 158 0 0 0.608945 0 0 KIF11 3832 broad.mit.edu 37 10 94390060 94390060 + Missense_Mutation SNP A A G TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr10:94390060A>G ENST00000260731.3 + 12 1523 c.1433A>G c.(1432-1434)gAa>gGa p.E478G NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 478 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding p.E478G(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTGTTAAAGAAGAATATATC 0.343000 7 46 0 0 0.248553 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450382 110450382 + Silent SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr11:110450382C>T ENST00000260283.4 - 16 3572 c.3288G>A c.(3286-3288)agG>agA p.R1096R ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1096 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R1096R(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CTTCAGCTGCCCTTAAGGGCA 0.522000 4 139 0 0 0.150653 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 92 0 0 0.217242 0 0 TDGF1P3 0 broad.mit.edu 37 X 109764689 109764689 + RNA SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chrX:109764689G>A ENST00000602699.1 + 0 1150 NR_002718.2 CACGATGTGCGCAAAGAGAAC 0.572000 20 40 0 0 0.557998 0 0 PAPPA 5069 broad.mit.edu 37 9 118950296 118950296 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr9:118950296G>A ENST00000328252.3 + 2 1648 c.1279G>A c.(1279-1281)Gag>Aag p.E427K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 427 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.E427K(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGTGACCCCGAGTGCAACCA 0.632000 4 61 0 0 0.150653 0 0 RASEF 158158 broad.mit.edu 37 9 85597623 85597623 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr9:85597623G>A ENST00000376447.3 - 17 2452 c.2192C>T c.(2191-2193)tCa>tTa p.S731L NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 731 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding p.S731L(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CATCTGTGGTGACTTTTTGGA 0.413000 22 178 0 0 0.592651 0 0 MKLN1 4289 broad.mit.edu 37 7 131172448 131172448 + Silent SNP T T G TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr7:131172448T>G ENST00000352689.6 + 18 2209 c.2169T>G c.(2167-2169)acT>acG p.T723T MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 723 signal transduction cytoplasm protein binding p.T723T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) ACAGCATGACTCCTCCTAAAG 0.433000 12 56 0 0 0.387290 0 0 PANX3 116337 broad.mit.edu 37 11 124481615 124481615 + Missense_Mutation SNP G G A rs142639637 byFrequency TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr11:124481615G>A ENST00000284288.2 + 1 230 c.163G>A c.(163-165)Gcc>Acc p.A55T NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 55 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity p.A55T(2) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCTGGCATTCGCCCAGGAGTT 0.587000 14 37 0 0 0.457914 0 0 DSN1 79980 broad.mit.edu 37 20 35399437 35399437 + Missense_Mutation SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr20:35399437C>T ENST00000426836.1 - 3 566 c.194G>A c.(193-195)tGt>tAt p.C65Y DSN1_ENST00000448110.1_Missense_Mutation_p.C49Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y|DSN1_ENST00000473615.1_Intron NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 65 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding p.C65Y(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) GCTGAGATCACAATTTCCCCC 0.478000 11 186 0 0 0.387290 0 0 COL1A1 1277 broad.mit.edu 37 17 48270010 48270010 + Silent SNP G G A rs140024722 TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr17:48270010G>A ENST00000225964.5 - 28 2038 c.1920C>T c.(1918-1920)ccC>ccT p.P640P NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 640 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.P640P(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CCTGGAATCCGGGGGAGCCAG 0.602000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 19 166 0 0 0.575678 0 0 GPM6A 2823 broad.mit.edu 37 4 176622807 176622807 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr4:176622807G>A ENST00000280187.7 - 3 194 c.149C>T c.(148-150)gCg>gTg p.A50V GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 50 cell surface|integral to membrane p.A50V(3) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TCCAGAAAGCGCTTCATGACC 0.488000 5 155 0 0 0.184627 0 0 SUSD2 56241 broad.mit.edu 37 22 24581177 24581177 + Missense_Mutation SNP G G C TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr22:24581177G>C ENST00000358321.3 + 6 1159 c.898G>C c.(898-900)Gag>Cag p.E300Q NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 300 AMOP. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity p.E300Q(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GGAGGAGCTGGAGGATCAGCT 0.672000 10 46 0 0 0.387290 0 0 NADK 65220 broad.mit.edu 37 1 1688587 1688588 + Frame_Shift_Ins INS - - C TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:1688587_1688588insC ENST00000344463.4 - 6 958_959 c.737_738insG c.(736-738)ggcfs p.G246fs NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|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) CTCCATGTGCACCCCAGGCCCC 0.634 2 4 --- --- --- --- RP11-991C1.2 0 broad.mit.edu 37 14 95516588 95516610 + RNA DEL GGAAGGAAGGAAGGAAAGAAGAA GGAAGGAAGGAAGGAAAGAAGAA - rs36211516 by1000genomes TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA ENST00000554033.1 + 0 41 aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg 0.448 2 4 --- --- --- ---