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 RRBP1 6238 broad.mit.edu 37 20 17622555 17622555 + Nonsense_Mutation SNP T T A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:17622555T>A ENST00000377813.1 - 5 2374 c.2071A>T c.(2071-2073)Aag>Tag p.K691* RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691* Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 691 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity p.K258*(1)|p.K691*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GGGTCACCCTTCTGAGTGGCC 0.557000 10 192 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41465774 41465774 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr21:41465774C>T ENST00000400454.1 - 21 4201 c.3724G>A c.(3724-3726)Gac>Aac p.D1242N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1242 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.D1242N(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAAAACGAGTCGGGAGAGGCC 0.478000 22 33 0 0 1 0 0 TAL2 6887 broad.mit.edu 37 9 108424812 108424812 + Missense_Mutation SNP G G C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr9:108424812G>C ENST00000334077.3 + 1 75 c.35G>C c.(34-36)cGg>cCg p.R12P NM_005421.2 NP_005412.1 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R12P(1) ACCAGGGAGCGGTGGAGGCAG 0.502000 T TRB@ T-ALL 13 63 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72370579 72370579 + Silent SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:72370579G>T ENST00000430046.2 + 20 1706 c.1590G>T c.(1588-1590)cgG>cgT p.R530R FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 530 p.R530R(2) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) GTGTGTCACGGGGTCCCAGCC 0.408000 3 37 1 1 1 1 0 SIK3 23387 broad.mit.edu 37 11 116729309 116729309 + Missense_Mutation SNP T T C rs141671439 by1000genomes TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:116729309T>C ENST00000375300.1 - 20 2733 c.2728A>G c.(2728-2730)Aca>Gca p.T910A SIK3_ENST00000446921.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron Q9Y2K2 SIK3_HUMAN SIK family kinase 3 852 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.T958A(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CCCACTCCTGTTGAAGGGCTG 0.582000 45 133 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114483187 114483187 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:114483187A>G ENST00000369558.1 + 2 414 c.182A>G c.(181-183)cAg>cGg p.Q61R HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.Q61R(3) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTCTCACCAGGTAGCAAAT 0.537000 15 227 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134942117 134942117 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr10:134942117C>T ENST00000607359.1 + 16 2942 c.2942C>T c.(2941-2943)aCg>aTg p.T981M GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 262 integral to membrane|plasma membrane G-protein coupled receptor activity p.T262M(1)|p.T981M(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCCGCCTTCACGCTGTTCCTG 0.692000 5 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179580256 179580256 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:179580256C>T ENST00000589042.1 - 89 26109 c.25885G>A c.(25885-25887)Ggc>Agc p.G8629S TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8312 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G7385S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGCACTGCCTGCTGCATTG 0.478000 12 85 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582179 180582179 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:180582179G>A ENST00000328275.1 + 1 237 c.237G>A c.(235-237)gtG>gtA p.V79V NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V79V(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTACCAATGTGCCAAAGATGG 0.517000 14 245 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4791052 4791052 + Silent SNP A A T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:4791052A>T ENST00000380383.1 - 1 116 c.117T>A c.(115-117)ccT>ccA p.P39P OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 32 integral to membrane olfactory receptor activity p.P32P(1) kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AACAACAGAAAGGAATGGAGA 0.453000 11 41 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413230 105413230 + Missense_Mutation SNP T T G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr14:105413230T>G ENST00000333244.5 - 7 8677 c.8558A>C c.(8557-8559)cAa>cCa p.Q2853P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2853 nucleus p.Q2853P(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAGATCCCCTTGCATGGAGGG 0.622000 19 230 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179121 65179121 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr18:65179121A>G ENST00000310045.7 - 2 4228 c.2755T>C c.(2755-2757)Tca>Cca p.S919P CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 909 integral to membrane isomerase activity|sulfotransferase activity p.S919P(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CGGATATCTGACACCTTCCAT 0.423000 5 138 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614412 247614412 + Silent SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:247614412G>T ENST00000318749.6 - 1 896 c.873C>A c.(871-873)ccC>ccA p.P291P NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P291P(2) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGTAGGTGAAGGGATTGAGAG 0.488000 6 423 0.0215528 0.0223925 1 1 0 EPB41L3 23136 broad.mit.edu 37 18 5397388 5397388 + Missense_Mutation SNP G G A rs143141379 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr18:5397388G>A ENST00000341928.2 - 18 2850 c.2510C>T c.(2509-2511)aCg>aTg p.T837M EPB41L3_ENST00000400111.3_Missense_Mutation_p.T615M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T668M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T837M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T142M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T134M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T615M|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 837 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.T837M(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GGTGGGTTCCGTCTCTATTCC 0.542000 5 62 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7061281 7061281 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr12:7061281C>T ENST00000456013.1 + 3 509 c.267C>T c.(265-267)cgC>cgT p.R89R PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000318974.9_Silent_p.R89R NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 89 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity p.R89R(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 TGCAGGACCGCGACGGCACCA 0.587000 12 132 0 0 1 0 0 AADAC 13 broad.mit.edu 37 3 151545615 151545615 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:151545615C>T ENST00000232892.6 + 5 981 c.855C>T c.(853-855)tcC>tcT p.S285S RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 285 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity p.S285S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ATTGGAGTTCCCTGCTCCCTG 0.383000 9 200 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65751577 65751577 + Missense_Mutation SNP G G A rs142506783 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:65751577G>A ENST00000304842.5 + 3 1350 c.925G>A c.(925-927)Gat>Aat p.D309N TPST1_ENST00000480281.1_3'UTR NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 309 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity p.D309N(1) NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GATACCGCCAGATGTTTTACA 0.428000 9 106 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628979 71628979 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr9:71628979G>A ENST00000377276.2 - 1 60 c.30C>T c.(28-30)acC>acT p.T10T NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 10 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity p.T10T(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CCTCCTGCTCGGTGTCCTTCT 0.692000 5 44 0 0 1 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591153 56591153 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chrX:56591153G>A ENST00000338222.5 + 1 1128 c.847G>A c.(847-849)Gca>Aca p.A283T NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 283 cytoplasm|nucleus|plasma membrane binding p.A283T(2) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 GCTGAATGCCGCACAAGAGCA 0.517000 3 39 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102047576 102047576 + Silent SNP C C T rs145910377 byFrequency TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr13:102047576C>T ENST00000251127.6 - 3 330 c.249G>A c.(247-249)acG>acA p.T83T NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.T83T|NALCN_ENST00000376200.5_Silent_p.T83T NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 83 integral to membrane sodium channel activity|voltage-gated ion channel activity p.T83T(2) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCATCTCTGCCGTGTAGAGAA 0.403000 18 95 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335248 20335248 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr16:20335248C>A ENST00000302555.5 - 3 574 c.425G>T c.(424-426)aGt>aTt p.S142I GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 142 anchored to membrane|extracellular region|plasma membrane p.S142I(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GCAGTTGCCACTCCAATGGGC 0.592000 3 83 1 1 1 1 0 ICAM1 3383 broad.mit.edu 37 19 10394818 10394818 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:10394818G>A ENST00000264832.3 + 4 1072 c.747G>A c.(745-747)caG>caA p.Q249Q CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.Q27Q NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 249 Ig-like C2-type 3. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity p.Q249Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CGGAGGCCCAGGTCCACCTGG 0.647000 4 55 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135801246 135801246 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:135801246C>T ENST00000264977.3 + 8 3388 c.2771C>T c.(2770-2772)tCt>tTt p.S924F PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 924 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity p.S303F(1)|p.S924F(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCCGATCTGTCTCGATACAAT 0.348000 12 166 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6077614 6077614 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:6077614C>T ENST00000217289.4 - 8 1812 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 342 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding p.E342K(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 GCTTCTATTTCATCAACCTCG 0.418000 8 393 0 0 1 0 0 SLC35F5 80255 broad.mit.edu 37 2 114501368 114501368 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:114501368C>T ENST00000245680.2 - 6 897 c.484G>A c.(484-486)Gaa>Aaa p.E162K SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 162 transport integral to membrane p.E162K(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 TACAGAGGTTCACTCTGGAAT 0.323000 69 196 0 0 1 0 0 FAM5C 0 broad.mit.edu 37 1 190129810 190129810 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:190129810A>G ENST00000367462.3 - 7 1403 c.1172T>C c.(1171-1173)cTg>cCg p.L391P FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L289P NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 391 extracellular region p.L391P(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTGTCTTGGCAGGCTGATGAG 0.373000 13 135 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25505422 25505422 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:25505422G>A ENST00000264709.3 - 4 673 c.336C>T c.(334-336)ggC>ggT p.G112G DNMT3A_ENST00000321117.5_Silent_p.G112G|DNMT3A_ENST00000406659.3_Silent_p.G112G NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 112 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.G112G(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGGCCCCGCCCTTCTGCC 0.667000 """Mis, F, N, S""" AML 4 96 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158064571 158064571 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:158064571C>T ENST00000368172.1 + 11 1389 c.1377C>T c.(1375-1377)agC>agT p.S459S KIRREL_ENST00000416935.2_Silent_p.S545S|KIRREL_ENST00000392272.2_Silent_p.S542S|KIRREL_ENST00000359209.6_Silent_p.S645S|KIRREL_ENST00000368173.3_Silent_p.S661S|KIRREL_ENST00000360089.4_Silent_p.S481S Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 645 Ig-like C2-type 5. integral to membrane p.S661S(1)|p.S481S(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CCCACTCCAGCGGCTATGCCC 0.672000 6 39 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233394757 233394757 + Missense_Mutation SNP G G A rs148869069 byFrequency TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:233394757G>A ENST00000258385.3 + 7 760 c.728G>A c.(727-729)cGc>cAc p.R243H CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P206P NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 243 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.R243H(2) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CTCATCATCCGCCGCAAGCCC 0.607000 18 57 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5798848 5798848 + Missense_Mutation SNP A A C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr9:5798848A>C ENST00000339450.5 - 12 2317 c.2228T>G c.(2227-2229)cTt>cGt p.L743R ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R|ERMP1_ENST00000381506.3_3'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 743 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity p.L743R(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) AAAACCACAAAGAGGTGCATT 0.403000 5 72 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159790453 159790453 + Nonsense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:159790453C>T ENST00000264433.6 + 13 2740 c.2665C>T c.(2665-2667)Cga>Tga p.R889* FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912* NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 889 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding p.R215*(1)|p.R889*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AGACATTCCCCGAAATGAAAG 0.592000 3 27 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 11014937 11014937 + Splice_Site SNP C C T rs76467559 by1000genomes TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr21:11014937C>T ENST00000415664.2 - 6 808 c.e6+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAGCACAATACCTATCACATT 0.328000 3 54 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371608 126371608 + Nonsense_Mutation SNP T T A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:126371608T>A ENST00000394329.3 + 9 9450 c.9437T>A c.(9436-9438)tTa>tAa p.L3146* FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3146 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L3146*(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACAGGTATATTAACACTAGCC 0.398000 4 145 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42161556 42161556 + Silent SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:42161556T>C ENST00000444063.1 + 9 1290 c.1158T>C c.(1156-1158)taT>taC p.Y386Y L3MBTL1_ENST00000418998.1_Silent_p.Y454Y|L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 386 Interaction with monomethylated and dimethylated peptides. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y454Y(1) breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 ATGATACTTATGACTACTGGT 0.572000 7 77 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 49 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38991766 38991766 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:38991766G>A ENST00000450244.1 - 1 286 c.88C>T c.(88-90)Cgg>Tgg p.R30W SCN11A_ENST00000456224.3_Missense_Mutation_p.R30W|SCN11A_ENST00000444237.2_Missense_Mutation_p.R30W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R30W Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 30 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R30W(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGGCAATCCGCTTCTCAATT 0.517000 9 216 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5784048 5784048 + Silent SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:5784048T>C ENST00000419421.2 - 3 314 c.210A>G c.(208-210)ccA>ccG p.P70P CTB-54O9.9_ENST00000586012.1_3'UTR NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 68 p.P68P(1) endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 AGCACCCGCATGGGGCCATCT 0.677000 3 45 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42150888 42150888 + Missense_Mutation SNP G G A rs890503 by1000genomes TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:42150888G>A ENST00000320955.6 - 49 8365 c.8138C>T c.(8137-8139)aCa>aTa p.T2713I NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2713 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin p.T2713I(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CAGCATGGCTGTGTCCAGCAA 0.632000 7 7 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42681231 42681231 + Missense_Mutation SNP T T G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:42681231T>G ENST00000397163.3 + 5 957 c.738T>G c.(736-738)agT>agG p.S246R CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|RP11-164J13.1_ENST00000495723.1_RNA NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 246 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity p.S246R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ATGCTCCTAGTGACATGTACA 0.542000 17 194 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69708370 69708370 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:69708370G>A ENST00000260363.4 + 2 166 c.49G>A c.(49-51)Ggg>Agg p.G17R KIF23_ENST00000559279.1_Missense_Mutation_p.G17R|KIF23_ENST00000395392.2_Missense_Mutation_p.G17R|KIF23_ENST00000352331.4_Missense_Mutation_p.G17R NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 17 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding p.G17R(2) central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 CGTGAAAAAAGGGTCCCAAAC 0.378000 3 42 0 0 1 0 0 PHTF2 57157 broad.mit.edu 37 7 77567152 77567152 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:77567152C>T ENST00000416283.2 + 11 1488 c.1362C>T c.(1360-1362)aaC>aaT p.N454N PHTF2_ENST00000422959.2_Silent_p.N454N|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Silent_p.N450N NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TGATAATGAACAGAGTGAGTT 0.308000 6 55 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101163490 101163490 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr10:101163490C>A ENST00000370508.5 - 6 811 c.784G>T c.(784-786)Ggg>Tgg p.G262W GOT1_ENST00000543866.1_Missense_Mutation_p.G241W NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 262 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.G262W(2) endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGTAGAGCCCGAAGTTCTTG 0.537000 3 111 0.115264 0.118219 1 1 0 KCNA2 3737 broad.mit.edu 37 1 111147494 111147494 + Translation_Start_Site SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:111147494C>T ENST00000485317.1 - 0 584 KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_De_novo_Start_InFrame|KCNA2_ENST00000316361.4_De_novo_Start_InFrame|KCNA2_ENST00000369770.3_De_novo_Start_InFrame P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CCAGGAAGCACAGGAGCATTG 0.582000 13 48 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198570300 198570300 + Silent SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:198570300G>T ENST00000282276.6 + 1 214 c.171G>T c.(169-171)gcG>gcT p.A57A AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 57 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.A57A(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TGAACGCGGCGCCGCACATCG 0.647000 6 30 0.00116845 0.00126318 1 1 0 FAT4 79633 broad.mit.edu 37 4 126371768 126371768 + Silent SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:126371768T>C ENST00000394329.3 + 9 9610 c.9597T>C c.(9595-9597)taT>taC p.Y3199Y FAT4_ENST00000335110.5_Silent_p.Y1497Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3199 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y3199Y(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGATGACTATTTCCCTACTG 0.418000 9 141 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177083293 177083293 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:177083293G>A ENST00000393643.2 + 21 3070 c.2818G>A c.(2818-2820)Gca>Aca p.A940T WDR17_ENST00000507824.2_Missense_Mutation_p.A947T|WDR17_ENST00000508596.1_Missense_Mutation_p.A940T|WDR17_ENST00000280190.4_Missense_Mutation_p.A964T NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 964 p.A964T(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AGTACTAGCCGCATGTTGCCA 0.353000 15 62 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148760005 148760005 + Silent SNP A A T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:148760005A>T ENST00000310053.5 - 19 2338 c.2145T>A c.(2143-2145)atT>atA p.I715I HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000392912.2_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 715 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.I715I(1) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TATGGCAACAAATTTGCCGCA 0.373000 42 113 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101607290 101607290 + Silent SNP C C T rs146215582 byFrequency TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:101607290C>T ENST00000335681.5 + 19 2352 c.2067C>T c.(2065-2067)gaC>gaT p.D689D NPAS2_ENST00000542504.1_Silent_p.D754D NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 689 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.D689D(1) cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTCCTGTGACGCAAGGCAGC 0.607000 8 46 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770341 31770341 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:31770341C>T ENST00000240587.4 - 2 685 c.358G>A c.(358-360)Gcc>Acc p.A120T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 120 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A120T(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTGTACACGGCCTTCATCTGC 0.557000 4 75 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116767026 116767026 + Missense_Mutation SNP T T C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:116767026T>C ENST00000375300.1 - 6 813 c.808A>G c.(808-810)Aat>Gat p.N270D SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000375288.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 212 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.N270D(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GCCCGCAGATTCTGCAGTGTG 0.507000 6 116 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15378658 15378658 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:15378658C>T ENST00000281513.5 - 45 5902 c.5877G>A c.(5875-5877)gaG>gaA p.E1959E NBAS_ENST00000441750.1_Silent_p.E1839E NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1959 p.E1959E(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CAAGTGATTTCTCCAGATGAT 0.408000 9 110 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65790302 65790302 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:65790302G>A ENST00000341861.5 - 5 2243 c.663C>T c.(661-663)tgC>tgT p.C221C DPP8_ENST00000559233.1_Silent_p.C221C|DPP8_ENST00000358939.4_Silent_p.C205C|DPP8_ENST00000339244.5_Silent_p.C221C|DPP8_ENST00000321118.7_Silent_p.C221C|DPP8_ENST00000321147.6_Silent_p.C221C|DPP8_ENST00000300141.6_Silent_p.C205C NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 221 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity p.C205C(1) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GATCAGCAGGGCATAATTTTG 0.383000 4 154 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33165658 33165658 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr6:33165658C>T ENST00000374680.3 - 4 912 c.701G>A c.(700-702)cGc>cAc p.R234H RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 234 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.R234H(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AAGGTCTTTGCGGATGGTGCG 0.542000 3 73 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66947138 66947138 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr16:66947138G>A ENST00000299752.4 - 9 1143 c.950C>T c.(949-951)gCg>gTg p.A317V CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 317 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A317V(1) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CAGAGGGGCCGCATAGTCCTC 0.622000 5 173 0 0 1 0 0 TOM1L1 10040 broad.mit.edu 37 17 53007460 53007460 + Missense_Mutation SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr17:53007460G>T ENST00000575882.1 + 8 1100 c.747G>T c.(745-747)atG>atT p.M249I TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 249 GAT. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding p.M249I(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 GTCGGGAGATGCAGGAGAGGA 0.418000 29 111 7.26314e-15 8.18382e-15 1 1 0 CDC40 51362 broad.mit.edu 37 6 110547378 110547378 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr6:110547378C>T ENST00000368932.1 + 14 1450 c.1349C>T c.(1348-1350)cCt>cTt p.P450L CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L|CDC40_ENST00000368933.1_Missense_Mutation_p.P450L|CDC40_ENST00000445340.2_Intron O60508 PRP17_HUMAN cell division cycle 40 450 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm p.P450L(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AGGGATATCCCTGTGGATTTC 0.323000 25 88 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899410 156899410 + Silent SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:156899410C>T ENST00000311946.7 + 6 959 c.843C>T c.(841-843)taC>taT p.Y281Y NIPAL4_ENST00000435489.2_Silent_p.Y262Y|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 281 integral to membrane receptor activity p.Y219Y(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCCCACGTTACGGGCAAAGGA 0.512000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 302 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31663865 31663865 + Missense_Mutation SNP G G C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr22:31663865G>C ENST00000331728.4 + 10 1346 c.1232G>C c.(1231-1233)gGc>gCc p.G411A LIMK2_ENST00000340552.4_Missense_Mutation_p.G390A|LIMK2_ENST00000333611.4_Missense_Mutation_p.G390A|LIMK2_ENST00000444929.2_Missense_Mutation_p.G165A|LIMK2_ENST00000406516.1_Missense_Mutation_p.G333A NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 411 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding p.G411A(2) endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 ATTGAGGGGGGCACACTGAAG 0.527000 6 113 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577155 158577155 + Missense_Mutation SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:158577155G>T ENST00000361284.1 + 1 927 c.927G>T c.(925-927)ttG>ttT p.L309F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L309F(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GAGGGAGATTGCTGGGTAAAG 0.478000 11 241 1.58986e-06 1.76652e-06 1 1 0 PPARD 5467 broad.mit.edu 37 6 35389697 35389697 + Missense_Mutation SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr6:35389697G>A ENST00000311565.4 + 6 735 c.386G>A c.(385-387)cGc>cAc p.R129H PPARD_ENST00000448077.2_Missense_Mutation_p.R90H|PPARD_ENST00000540939.1_Missense_Mutation_p.R26H|PPARD_ENST00000360694.3_Missense_Mutation_p.R129H|PPARD_ENST00000444397.1_Missense_Mutation_p.R129H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.R129H NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 129 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.R129H(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CAGTACTGCCGCTTCCAGAAG 0.572000 9 50 0 0 1 0 0 S1PR5 53637 broad.mit.edu 37 19 10625418 10625418 + Silent SNP G G A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr19:10625418G>A ENST00000439028.3 - 2 395 c.270C>T c.(268-270)gcC>gcT p.A90A S1PR5_ENST00000333430.4_Silent_p.A90A NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 90 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity p.A90A(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 GGATGTTGGCGGCGTAGGCGG 0.672000 5 4 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20890188 20890188 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr12:20890188C>A ENST00000381552.1 + 11 1898 c.1530C>A c.(1528-1530)aaC>aaA p.N510K SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 510 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.N510K(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AAACCTCCAACAGGAGTGGAA 0.413000 14 100 0.00185496 0.00197862 1 1 0 RTP3 83597 broad.mit.edu 37 3 46542309 46542309 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:46542309A>G ENST00000296142.3 + 2 1191 c.619A>G c.(619-621)Atc>Gtc p.I207V NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 207 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding p.I207V(1) endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CCAAAACCACATCTGTAGGAA 0.433000 34 151 0 0 1 0 0 YWHAH 7533 broad.mit.edu 37 22 32346379 32346379 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr22:32346379C>T ENST00000397492.1 + 2 384 c.172C>T c.(172-174)Cct>Tct p.P58S YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron Q04917 1433F_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 0 glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1) 4 CGCCCCTACTCCTGGCTGCAG 0.522000 25 90 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637353 248637353 + Missense_Mutation SNP T T A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr1:248637353T>A ENST00000359594.2 + 1 727 c.702T>A c.(700-702)aaT>aaA p.N234K NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N234K(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGGATGAATTCTGCCGCCG 0.562000 13 143 0 0 1 0 0 ST6GALNAC6 30815 broad.mit.edu 37 9 130653032 130653032 + Silent SNP G G A rs140405426 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr9:130653032G>A ENST00000373146.1 - 5 767 c.588C>T c.(586-588)ctC>ctT p.L196L ST6GALNAC6_ENST00000291839.5_Silent_p.L196L|ST6GALNAC6_ENST00000373141.1_Silent_p.L162L|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373142.1_Silent_p.L196L|ST6GALNAC6_ENST00000373144.3_Silent_p.L162L|ST6GALNAC6_ENST00000485320.1_5'UTR Q969X2 SIA7F_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 196 protein glycosylation integral to Golgi membrane|plasma membrane p.L196L(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TCACACGCACGAGGCTGCCCT 0.637000 9 75 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420976 55420976 + Silent SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr12:55420976C>A ENST00000242994.3 + 2 1131 c.753C>A c.(751-753)ggC>ggA p.G251G NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 251 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G251G(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CTTATGAGGGCCCACTCACTC 0.502000 23 159 9.95505e-16 1.13772e-15 1 1 0 CLIC2 1193 broad.mit.edu 37 X 154528413 154528413 + Missense_Mutation SNP G G C TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chrX:154528413G>C ENST00000369449.2 - 2 321 c.103C>G c.(103-105)Cgc>Ggc p.R35G CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 35 N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity p.R35G(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATGAAAAGGCGTTGGCAAAAG 0.363000 18 87 0 0 1 0 0 WDFY1 57590 broad.mit.edu 37 2 224749392 224749392 + Missense_Mutation SNP C C A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr2:224749392C>A ENST00000233055.4 - 9 1008 c.906G>T c.(904-906)tgG>tgT p.W302C NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 302 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding p.W302C(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TCTTGGTGTCCCACATCTGCT 0.463000 5 366 0.014758 0.0155347 1 1 0 SLC12A1 6557 broad.mit.edu 37 15 48580269 48580269 + Missense_Mutation SNP C C T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr15:48580269C>T ENST00000396577.3 + 22 2874 c.2659C>T c.(2659-2661)Cat>Tat p.H887Y SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 887 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity p.H887Y(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CCAGTCGATGCATGTGGGAGA 0.403000 7 25 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15458194 15458194 + Missense_Mutation SNP T T C rs146442781 byFrequency TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:15458194T>C ENST00000342526.3 - 5 767 c.598A>G c.(598-600)Atc>Gtc p.I200V NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 200 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.I200V(1) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TCTGTATGGATCCAAAATTGG 0.348000 19 38 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592755 156592755 + Missense_Mutation SNP A A G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:156592755A>G ENST00000302938.4 - 1 520 c.425T>C c.(424-426)cTg>cCg p.L142P NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 142 nucleus p.L142P(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCGAGTTTCAGGCGCAGCTG 0.493000 3 109 0 0 1 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176768285 176768286 + Frame_Shift_Ins INS - - A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:176768285_176768286insA ENST00000430069.1 - 6 799_800 c.540_541insT c.(538-543)gtgtgafs p.*181fs TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.*181fs Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 181 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) AGGAGATCACTAACAGGGTTCC 0.361 15 64 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 3 5 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 7 109 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173317315 173317316 + Frame_Shift_Ins INS - - G TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr5:173317315_173317316insG ENST00000265085.5 + 1 2033_2034 c.579_580insG c.(577-582)gggggtfs p.GG193fs CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.GG193fs NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 193 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TTCACCAGGGAGGGGTCCCTGC 0.505 15 157 --- --- --- --- MKRN1 23608 broad.mit.edu 37 7 140158897 140158897 + Frame_Shift_Del DEL G G - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr7:140158897delG ENST00000255977.2 - 4 905 c.681delC c.(679-681)aafs p.N227fs MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000437223.2_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 227 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) GATACACACAGTTCTCCCCGT 0.522 19 233 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89385933 89385937 + RNA DEL TATTT TATTT - rs67101267 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr11:89385933_89385937delTATTT ENST00000532352.1 + 0 402 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATATTGATTATATTTTATTAATGGT 0.293 3 4 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32126912 32126912 + RNA DEL A A - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr16:32126912delA ENST00000564145.1 - 0 456 TATTTTGCCCACCCGCCGCCG 0.602 5 7 --- --- --- --- NPIPB1P 0 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 4 3 --- --- --- --- DYNLRB1 83658 broad.mit.edu 37 20 33122618 33122618 + Frame_Shift_Del DEL C C - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr20:33122618delC ENST00000417166.2 + 3 299 c.266delC c.(265-267)tcfs p.S89fs DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron|DYNLRB1_ENST00000357156.2_Intron Q9NP97 DLRB1_HUMAN dynein, light chain, roadblock-type 1 0 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity endometrium(1)|large_intestine(1)|lung(1) 3 TCTTCTACCTCCCCATGTAGG 0.532 7 51 --- --- --- --- NCAM2 4685 broad.mit.edu 37 21 22658654 22658655 + Frame_Shift_Ins INS - - T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71f9ca33-4f59-47fa-98b2-6074451c14a4 6d784e6d-e22b-41f0-9ea2-154445f6fe64 g.chr21:22658654_22658655insT ENST00000400546.1 + 4 652_653 c.403_404insT c.(403-405)ttgfs p.L135fs NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.L160fs|NCAM2_ENST00000284894.7_Intron NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 135 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGCAGAAGTGGTTTGCCGAGTT 0.401 25 87 --- --- --- ---