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 PGM1 5236 broad.mit.edu 37 1 64089265 64089265 + Missense_Mutation SNP A A G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr1:64089265A>G ENST00000371083.4 + 1 502 c.134A>G c.(133-135)tAt>tGt p.Y45C PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 27 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity p.Y45C(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AAGAAAACCTATTATTTTGAG 0.418 29 117 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576873 158576873 + Silent SNP C C T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr1:158576873C>T ENST00000361284.1 + 1 645 c.645C>T c.(643-645)acC>acT p.T215T NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T215T(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TCTTCATCACCATCTCCTACG 0.537 28 267 --- --- --- --- RNASEL 6041 broad.mit.edu 37 1 182550489 182550489 + Silent SNP G G A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr1:182550489G>A ENST00000367559.3 - 5 2029 c.1776C>T c.(1774-1776)cgC>cgT p.R592R RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 592 KEN. R -> H (in dbSNP:rs35896902). mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding p.R592R(2) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GCGTCCTATAGCGGCTGAAGA 0.413 46 187 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203682293 203682293 + Splice_Site SNP G G A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr1:203682293G>A ENST00000357681.5 + 14 3335 c.2212G>A c.(2212-2214)Gta>Ata p.V738I ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 738 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.V738I(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GTGTTGGCAGGTAGAGCAAGA 0.502 34 153 --- --- --- --- LHCGR 3973 broad.mit.edu 37 2 48915655 48915655 + Nonsense_Mutation SNP A A T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr2:48915655A>T ENST00000294954.7 - 11 1302 c.1281T>A c.(1279-1281)taT>taA p.Y427* STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400* NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 427 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.Y427*(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TGGCATGGTTATAGTACTGGC 0.493 12 94 --- --- --- --- ZSWIM2 151112 broad.mit.edu 37 2 187693166 187693166 + Missense_Mutation SNP A A T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr2:187693166A>T ENST00000295131.2 - 9 1486 c.1447T>A c.(1447-1449)Tta>Ata p.L483I NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 483 apoptosis zinc ion binding p.L483I(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TCATAGGTTAATTTTTTTGAA 0.318 17 85 --- --- --- --- CMYA5 202333 broad.mit.edu 37 5 79029070 79029070 + Silent SNP A A G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr5:79029070A>G ENST00000446378.2 + 2 4513 c.4482A>G c.(4480-4482)aaA>aaG p.K1494K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1494 perinuclear region of cytoplasm p.K1494K(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TAGAAGACAAACAAGATCTTT 0.403 13 213 --- --- --- --- PCDHB14 56122 broad.mit.edu 37 5 140604725 140604725 + Missense_Mutation SNP C C G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr5:140604725C>G ENST00000239449.4 + 1 1648 c.1648C>G c.(1648-1650)Ctg>Gtg p.L550V PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 550 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGCGCGTGCTGGTGCTGGA 0.716 5 79 --- --- --- --- VGF 7425 broad.mit.edu 37 7 100807837 100807837 + Silent SNP G G A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr7:100807837G>A ENST00000249330.2 - 2 527 c.288C>T c.(286-288)ccC>ccT p.P96P VGF_ENST00000445482.2_Silent_p.P96P NM_003378.3 NP_003369.2 O15240 VGF_HUMAN VGF nerve growth factor inducible 96 response to cAMP extracellular space|transport vesicle growth factor activity p.P96P(1) cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) TTGGTGCCGGGGGTGAGGCGG 0.716 4 21 --- --- --- --- TNFRSF11B 4982 broad.mit.edu 37 8 119945484 119945484 + Missense_Mutation SNP A A C rs144062067 byFrequency TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr8:119945484A>C ENST00000297350.4 - 2 464 c.86T>G c.(85-87)cTt>cGt p.L29R NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 29 apoptosis|skeletal system development cytokine activity|receptor activity p.L29R(2) breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GTCATAATGAAGGTACTTTGG 0.443 36 165 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172250 94172250 + Nonsense_Mutation SNP G G C TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr9:94172250G>C ENST00000297689.3 - 2 1161 c.767C>G c.(766-768)tCa>tGa p.S256* NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 256 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.S256*(1) endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 GGGAGAGTGTGAGTACCCAGA 0.488 28 187 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24820812 24820812 + Missense_Mutation SNP C C A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr10:24820812C>A ENST00000376451.2 + 10 2445 c.2185C>A c.(2185-2187)Cct>Act p.P729T KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T Q5T5P2 SKT_HUMAN KIAA1217 1046 embryonic skeletal system development cytoplasm p.P1046T(2) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAAGTCGCCCCCTCCTCCTCC 0.517 3 55 --- --- --- --- NDST2 8509 broad.mit.edu 37 10 75565719 75565719 + Missense_Mutation SNP G G A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr10:75565719G>A ENST00000603027.1 - 7 2125 c.1502C>T c.(1501-1503)tCt>tTt p.S501F NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|NDST2_ENST00000309979.6_Missense_Mutation_p.S501F 501 p.S501F(1) TAGTTCACGAGAGCCTCCAGG 0.507 34 129 --- --- --- --- CD163 9332 broad.mit.edu 37 12 7640278 7640278 + Missense_Mutation SNP A A G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr12:7640278A>G ENST00000396620.3 - 7 1911 c.1826T>C c.(1825-1827)cTc>cCc p.L609P CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron Q86VB7 C163A_HUMAN CD163 molecule 579 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.?(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCCTGGAAGGAGACAGGGCTT 0.488 40 145 --- --- --- --- HCFC2 29915 broad.mit.edu 37 12 104487302 104487302 + Missense_Mutation SNP C C T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr12:104487302C>T ENST00000229330.4 + 10 1527 c.1423C>T c.(1423-1425)Cat>Tat p.H475Y HCFC2_ENST00000550335.1_3'UTR NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 475 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.H475Y(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TGCTTCTAATCATAATAGTCA 0.323 17 98 --- --- --- --- SEL1L 6400 broad.mit.edu 37 14 81993164 81993164 + Missense_Mutation SNP C C T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr14:81993164C>T ENST00000336735.4 - 3 369 c.253G>A c.(253-255)Gaa>Aaa p.E85K SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 85 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding p.E85K(1) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) GTGACACTTTCCCCCTCTTGG 0.418 10 316 --- --- --- --- IGHV1-58 28464 broad.mit.edu 37 14 107078542 107078542 + RNA SNP C C A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr14:107078542C>A ENST00000390628.2 - 0 242 AAGGCGTTGTCCACGAGCCTG 0.532 4 28 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99482581 99482581 + Missense_Mutation SNP A A G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr15:99482581A>G ENST00000268035.6 + 18 4060 c.3449A>G c.(3448-3450)aAa>aGa p.K1150R IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1150 Protein kinase. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding p.K1150R(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TTCACAGTCAAAATCGGAGGT 0.498 36 160 --- --- --- --- C16orf46 123775 broad.mit.edu 37 16 81095725 81095725 + Missense_Mutation SNP T T C rs17855893 TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr16:81095725T>C ENST00000378611.4 - 3 344 c.229A>G c.(229-231)Act>Gct p.T77A C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 77 T -> S (in dbSNP:rs17855893). p.T77A(1) NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GCTGGAGAAGTCCTTCCCCAC 0.552 29 100 --- --- --- --- TAF15 8148 broad.mit.edu 37 17 34147368 34147368 + Nonsense_Mutation SNP C C T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr17:34147368C>T ENST00000588240.1 + 5 332 c.217C>T c.(217-219)Caa>Taa p.Q73* AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70* NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 73 Gln/Gly/Ser/Tyr-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding p.Q73*(1) TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TTATGAGAATCAAAAGCAGAG 0.348 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 16 73 --- --- --- --- SRSF2 6427 broad.mit.edu 37 17 74732290 74732290 + Nonsense_Mutation SNP T T A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr17:74732290T>A ENST00000392485.2 - 2 791 c.619A>T c.(619-621)Aag>Tag p.K207* MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 207 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.K187*(1)|p.K207*(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GGGGGACTCTTCGATCGCGAC 0.547 Mis """MDS, CLL""" 5 175 --- --- --- --- SRSF2 6427 broad.mit.edu 37 17 74732291 74732291 + Silent SNP C C A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr17:74732291C>A ENST00000392485.2 - 2 790 c.618G>T c.(616-618)tcG>tcT p.S206S MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.S206S|SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 206 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.S186S(1)|p.S206S(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GGGGACTCTTCGATCGCGACC 0.547 Mis """MDS, CLL""" 6 175 --- --- --- --- ESCO1 114799 broad.mit.edu 37 18 19116092 19116092 + Missense_Mutation SNP G G C TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr18:19116092G>C ENST00000269214.5 - 10 3035 c.2098C>G c.(2098-2100)Cta>Gta p.L700V NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 700 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding p.L700V(1) breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 TAGCACATTAGTGGAGCCTGT 0.333 44 170 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10602358 10602358 + Missense_Mutation SNP G G A TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr19:10602358G>A ENST00000171111.5 - 3 1767 c.1220C>T c.(1219-1221)gCc>gTc p.A407V KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.A407V(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCTCATGGGGGCGCAGGGCGA 0.652 5 17 --- --- --- --- IZUMO2 126123 broad.mit.edu 37 19 50662822 50662822 + Missense_Mutation SNP T T C TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr19:50662822T>C ENST00000293405.3 - 3 323 c.323A>G c.(322-324)gAa>gGa p.E108G NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 108 integral to membrane p.E108G(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 CACCAGCTCTTCCAGCAGAGG 0.493 9 87 --- --- --- --- NLRP9 338321 broad.mit.edu 37 19 56244522 56244522 + Missense_Mutation SNP G G T TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr19:56244522G>T ENST00000332836.2 - 2 702 c.675C>A c.(673-675)ttC>ttA p.F225L NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 225 NACHT. cytoplasm ATP binding p.F225L(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CATCCATGATGAACAGAATTC 0.483 5 48 --- --- --- --- MAPRE1 22919 broad.mit.edu 37 20 31424469 31424469 + Silent SNP A A G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr20:31424469A>G ENST00000375571.5 + 4 436 c.297A>G c.(295-297)ggA>ggG p.G99G NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 99 CH. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding p.G99G(1) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 TAGTAAAAGGAAAGTTTCAGG 0.398 13 73 --- --- --- --- HDAC6 10013 broad.mit.edu 37 X 48674947 48674947 + Missense_Mutation SNP T T G TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chrX:48674947T>G ENST00000334136.5 + 19 1876 c.1698T>G c.(1696-1698)ttT>ttG p.F566L HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L|HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L Q9UBN7 HDAC6_HUMAN histone deacetylase 6 566 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.F566L(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GTTCCAACTTTGACTCCATCT 0.592 16 22 --- --- --- --- HDAC6 10013 broad.mit.edu 37 X 48674948 48674948 + Missense_Mutation SNP G G C TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chrX:48674948G>C ENST00000334136.5 + 19 1877 c.1699G>C c.(1699-1701)Gac>Cac p.D567H HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H|HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H Q9UBN7 HDAC6_HUMAN histone deacetylase 6 567 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.D567Y(1)|p.D567H(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TTCCAACTTTGACTCCATCTA 0.592 16 21 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227661593 227661593 + Frame_Shift_Del DEL G G - TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr2:227661593delG ENST00000305123.5 - 1 2882 c.1862delC c.(1861-1863)ccafs p.P621fs NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ACTGGGCACTGGGGCCACCCC 0.632 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 98 --- --- --- --- P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3595042 3595042 + Frame_Shift_Del DEL G G - TCGA-CH-5792-01A-11D-1576-08 TCGA-CH-5792-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9447bfdb-8772-4a94-a7e5-9b95f205b262 2f8846f4-bd22-447a-b4c3-4fc9049b5a21 g.chr17:3595042delG ENST00000550383.1 - 2 372 c.184delC c.(184-186)ctgfs p.L62fs P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs GCACTCTGCAGGGAGGTGTCG 0.592 39 215 --- --- --- ---