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 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 0.493000 9 87 0 0 1 0 0 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 0.418000 10 316 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491366 30491366 + 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.chr7:30491366G>A ENST00000222823.4 - 6 2192 c.1667C>T c.(1666-1668)aCg>aTg p.T556M NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 556 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity p.T556M(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 ATAGCAGGACGTGGTCGCTGC 0.607000 39 136 0 0 1 0 0 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 0.483000 5 48 0.184627 0.187654 1 1 0 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 0.323000 17 98 0 0 1 0 0 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_ENST00000359156.4_Intron|CD163_ENST00000541972.1_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 0.488000 40 145 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94749818 94749818 + 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.chr5:94749818C>T ENST00000283357.5 + 4 507 c.461C>T c.(460-462)tCg>tTg p.S154L NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 154 p.S154L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AAAGAGGAATCGCTCGCCAGG 0.473000 25 110 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905302 1905302 + 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.chr8:1905302C>A ENST00000518288.1 + 30 4143 c.3980C>A c.(3979-3981)gCc>gAc p.A1327D ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1299D|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A1328D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1303D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1265D O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1328 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity p.A1303D(1)|p.A1080D(1)|p.A1328D(1) endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) AAAGCCAAGGCCAGCTCGGCG 0.637000 5 79 0.014758 0.0152499 1 1 0 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 0.537000 28 267 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252727 155252727 + RNA 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.chrX:155252727T>C ENST00000285718.7 + 0 678 WASH6P_ENST00000461007.1_RNA TGCCTGAGATTGATGTTCCAT 0.607000 3 34 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961214 1961214 + 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.chr20:1961214G>A ENST00000217305.2 - 4 745 c.520C>T c.(520-522)Cgc>Tgc p.R174C PDYN_ENST00000540134.1_Missense_Mutation_p.R174C|PDYN_ENST00000539905.1_Missense_Mutation_p.R174C|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 174 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.R174C(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCCCATAGCGTTTGACCTGC 0.582000 7 171 0 0 1 0 0 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 0.652000 5 17 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432865 73432865 + 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.chr3:73432865C>T ENST00000263666.4 - 10 2966 c.2852G>A c.(2851-2853)cGg>cAg p.R951Q PDZRN3_ENST00000535920.1_Missense_Mutation_p.R673Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R668Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R608Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R608Q NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 951 ubiquitin-protein ligase activity|zinc ion binding p.R951Q(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCGCTCTTCCCGGATCTTCAG 0.657000 8 72 0 0 1 0 0 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 0.488000 28 187 0 0 1 0 0 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|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A 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 0.552000 29 100 0 0 1 0 0 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 0.592000 16 22 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162867 38162867 + 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.chr8:38162867C>T ENST00000317025.8 - 13 2856 c.2339G>A c.(2338-2340)cGc>cAc p.R780H WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R780H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R780H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 780 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding p.R780H(2) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GGGGAATTTGCGGACACAGGC 0.463000 T NUP98 AML 4 110 0 0 1 0 0 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 0.716000 4 21 0 0 1 0 0 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_ENST00000444138.1_Silent_p.R592R|RNASEL_ENST00000539397.1_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 0.413000 46 187 0 0 1 0 0 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* LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|STON1-GTF2A1L_ENST00000402114.2_Intron 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 0.493000 12 94 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49928943 49928943 + Silent SNP C C T rs138521247 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.chr3:49928943C>T ENST00000296474.3 - 16 3450 c.3423G>A c.(3421-3423)ccG>ccA p.P1141P MST1R_ENST00000344206.4_Silent_p.P1092P NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1141 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding p.P1141P(3) cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCAGCACATTCGGGTGGTTCA 0.612000 15 160 0 0 1 0 0 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.2211_splice c.e14-1 p.V738_splice ATP2B4_ENST00000367218.3_Splice_Site_p.V738_splice|ATP2B4_ENST00000341360.2_Splice_Site_p.V738_splice|ATP2B4_ENST00000367219.3_Splice_Site_p.V726_splice|ATP2B4_ENST00000391954.2_Splice_Site_p.V738_splice 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 0.502000 34 153 0 0 1 0 0 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 0.398000 13 73 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877295 24877295 + 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.chr14:24877295G>A ENST00000382554.3 + 3 737 c.419G>A c.(418-420)cGa>cAa p.R140Q NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 140 DNA integration integral to membrane DNA binding p.R140Q(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGGTGGGGCGACTGCGCTGG 0.682000 18 43 0 0 1 0 0 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* SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|MFSD11_ENST00000586622.1_5'UTR 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 0.547000 Mis """MDS, CLL""" 5 175 0 0 1 0 0 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_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T 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 0.517000 3 55 1 1 1 1 0 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 0.592000 16 21 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113661349 113661349 + RNA SNP A A G rs1713675 by1000genomes 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.chr11:113661349A>G ENST00000393544.2 + 0 1397 GGGTATAGATAACCTGGAAAC 0.478000 4 124 0 0 1 0 0 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 ENST00000299641.4 - 8 2103 c.1133C>T c.(1132-1134)tCt>tTt p.S378F NDST2_ENST00000309979.6_Missense_Mutation_p.S501F NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 501 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.S501F(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) TAGTTCACGAGAGCCTCCAGG 0.507000 34 129 0 0 1 0 0 RAB5C 5878 broad.mit.edu 37 17 40282379 40282379 + 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.chr17:40282379C>T ENST00000393860.3 - 3 458 c.142G>A c.(142-144)Gag>Aag p.E48K RAB5C_ENST00000346213.4_Missense_Mutation_p.E48K|RAB5C_ENST00000547517.1_Missense_Mutation_p.E81K|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E48K NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 48 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding p.E48K(1) large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TCCTGGTACTCGTGAAACTGT 0.542000 11 66 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes 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.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 3 87 0 0 1 0 0 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|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*|TAF15_ENST00000592237.1_5'UTR|AC015849.13_ENST00000589356.1_RNA 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 0.348000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 16 73 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10089567 10089567 + Splice_Site 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.chr19:10089567C>T ENST00000264828.3 - 40 3049 c.2964_splice c.e40+1 p.P988_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 988 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.P988P(3) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGATACTCACCGGGTCCCCAG 0.617000 5 39 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154667767 154667767 + 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.chr7:154667767C>T ENST00000404039.1 + 20 2430 c.1843C>T c.(1843-1845)Cgg>Tgg p.R615W DPP6_ENST00000427557.1_Missense_Mutation_p.R572W|DPP6_ENST00000377770.3_Missense_Mutation_p.R679W|DPP6_ENST00000332007.3_Missense_Mutation_p.R617W NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 679 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.R679W(1)|p.R615W(1) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGTGAGGCGGCGGCTGGGCTT 0.687000 7 27 0 0 1 0 0 KLF11 8462 broad.mit.edu 37 2 10188711 10188711 + 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.chr2:10188711G>A ENST00000535335.1 + 3 1412 c.1196G>A c.(1195-1197)cGc>cAc p.R399H KLF11_ENST00000540845.1_Missense_Mutation_p.R399H|KLF11_ENST00000305883.1_Missense_Mutation_p.R416H NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 416 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.R416H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GCCCATCTTCGCACTCACACA 0.567000 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 82 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3889497 3889497 + 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.chr8:3889497G>A ENST00000602557.1 - 4 1095 c.540C>T c.(538-540)caC>caT p.H180H CSMD1_ENST00000602723.1_Silent_p.H180H|CSMD1_ENST00000400186.3_Silent_p.H180H|CSMD1_ENST00000542608.1_Silent_p.H180H|CSMD1_ENST00000539096.1_Silent_p.H180H|CSMD1_ENST00000537824.1_Silent_p.H180H|CSMD1_ENST00000520002.1_Silent_p.H180H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 180 Sushi 1. integral to membrane p.H180H(1) 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) TCAGGATGGCGTGGCCTTCCA 0.542000 8 35 0 0 1 0 0 TXLNG 55787 broad.mit.edu 37 X 16859875 16859875 + 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:16859875G>C ENST00000380122.5 + 10 1634 c.1573G>C c.(1573-1575)Gag>Cag p.E525Q TXLNG_ENST00000398155.4_Missense_Mutation_p.E393Q|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 525 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane p.E525Q(2) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 TCCGGCCATCGAGTCGGTTGA 0.483000 32 63 0 0 1 0 0 PCDHB14 0 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 0.716000 5 79 0 0 1 0 0 IGHV1-58 0 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 0.532000 4 28 2.27111e-07 2.47033e-07 1 1 0 PCDHB14 0 broad.mit.edu 37 5 140604706 140604706 + 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.chr5:140604706C>A ENST00000239449.4 + 1 1629 c.1629C>A c.(1627-1629)agC>agA p.S543R PCDHB14_ENST00000515856.2_Missense_Mutation_p.S390R NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 543 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) CGTTGAGCAGCGAGGCGCTGG 0.682000 5 120 7.93312e-07 8.48023e-07 1 1 0 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 0.418000 29 117 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81993233 81993233 + 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.chr14:81993233C>T ENST00000336735.4 - 3 300 c.184G>A c.(184-186)Gat>Aat p.D62N SEL1L_ENST00000555824.1_Missense_Mutation_p.D62N NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 62 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding p.D62N(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) TCTTCTGAATCAAGAAATATT 0.383000 10 160 0 0 1 0 0 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 SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Silent_p.S206S|MFSD11_ENST00000586622.1_5'UTR 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 0.547000 Mis """MDS, CLL""" 6 175 8.12818e-05 8.54148e-05 1 1 0 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 0.498000 36 160 0 0 1 0 0 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 0.443000 36 165 0 0 1 0 0 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 0.403000 13 213 0 0 1 0 0 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 0.318000 17 85 0 0 1 0 0 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 0.333000 44 170 0 0 1 0 0 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 ENST00000305123.4 - 1 2882 c.1862delC c.(1861-1863)cafs p.P621fs NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 621 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 --- --- --- --- RP11-48B14.2 0 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)tgfs p.L62fs P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs GCACTCTGCAGGGAGGTGTCG 0.592 39 215 --- --- --- --- CD300LB 124599 broad.mit.edu 37 17 72527561 72527561 + 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.chr17:72527561delG ENST00000392621.1 - 1 44 c.40delC c.(40-42)agfs p.Q14fs CD300LB_ENST00000314401.3_Frame_Shift_Del_p.Q14fs NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 0 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 GATGCACTCTGGAAGTTCTGC 0.542 17 105 --- --- --- --- RP11-1055B8.7 0 broad.mit.edu 37 17 79428906 79428907 + In_Frame_Ins INS - - CAG 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.chr17:79428906_79428907insCAG ENST00000307745.7 + 30 7217_7218 c.7217_7218insCAG c.(7216-7218)cag>cCAGag p.2406_2406Q>PE RP11-1055B8.8_ENST00000572590.1_RNA GGCTCAGGCCCCAGCAGCAGCA 0.688 4 9 --- --- --- ---