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 TRBV25-1 28562 broad.mit.edu 37 7 142378659 142378659 + RNA SNP T T G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:142378659T>G ENST00000390398.3 + 0 86 TGGGGGCAGGTAAGTCATAGA 0.478000 16 26 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156753240 156753240 + Nonsense_Mutation SNP A A T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr5:156753240A>T ENST00000347377.6 + 18 2475 c.2044A>T c.(2044-2046)Aaa>Taa p.K682* CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.K682*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.K707*|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.K607*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.K486*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.K656*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.K381* NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 707 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACCAAGTTTAAAAAGCAGTT 0.448000 82 32 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813481 24813481 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr10:24813481C>T ENST00000376451.2 + 8 1995 c.1735C>T c.(1735-1737)Ccc>Tcc p.P579S KIAA1217_ENST00000376454.3_Missense_Mutation_p.P896S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P579S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P861S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P579S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P816S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P861S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P579S Q5T5P2 SKT_HUMAN KIAA1217 896 embryonic skeletal system development cytoplasm 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 GGTCATCCAGCCCTCCCAGCA 0.642000 31 14 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461118 141461118 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr8:141461118C>T ENST00000389328.4 - 2 663 c.649G>A c.(649-651)Ggg>Agg p.G217R TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G119R|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G119R NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 119 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CCCTGCAGCCCGAAGACAAAG 0.582000 38 51 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108175462 108175462 + Missense_Mutation SNP G G A rs1801516 byFrequency TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:108175462G>A ENST00000278616.4 + 37 5942 c.5557G>A c.(5557-5559)Gat>Aat p.D1853N ATM_ENST00000452508.2_Missense_Mutation_p.D1853N NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1853 D -> N (common polymorphism; dbSNP:rs1801516).|D -> V (might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.D1853N(10) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTTACTCCAAGATACAAATGA 0.388000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 5 57 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212794 62212794 + Silent SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr8:62212794C>T ENST00000519846.1 + 3 880 c.408C>T c.(406-408)taC>taT p.Y136Y CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y|RP11-787D18.1_ENST00000518064.1_RNA Q8IUQ0 CLVS1_HUMAN clavesin 1 136 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.Y136*(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGACCATTACGGCAGGAAGA 0.443000 32 38 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77872436 77872436 + Missense_Mutation SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr14:77872436T>C ENST00000380835.2 - 5 891 c.725A>G c.(724-726)tAt>tGt p.Y242C NM_001113475.2 NP_001106946.1 Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 242 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 TAGGGCCGCATAGAACACTCC 0.463000 12 26 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121206858 121206858 + Silent SNP T T A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:121206858T>A ENST00000264233.5 - 16 5048 c.4920A>T c.(4918-4920)ccA>ccT p.P1640P NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1640 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTTGCAGTCCTGGACTTAGAT 0.348000 DNA polymerases (catalytic subunits) 78 317 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 4 8 0 0 1 0 0 MNS1 55329 broad.mit.edu 37 15 56748690 56748690 + Silent SNP G G T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr15:56748690G>T ENST00000260453.3 - 3 419 c.255C>A c.(253-255)ctC>ctA p.L85L NM_018365.2 NP_060835.1 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 85 Glu-rich. meiosis breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 20 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) GTTTGAGCTGGAGTTCTTTCA 0.348000 12 38 0.00010058 0.000103538 1 1 0 OR4E2 26686 broad.mit.edu 37 14 22133973 22133973 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr14:22133973G>A ENST00000408935.1 + 1 677 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GTTTCTCTTCGAAAACACTCA 0.502000 63 70 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2347470 2347470 + Missense_Mutation SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr16:2347470T>C ENST00000301732.5 - 17 2823 c.2123A>G c.(2122-2124)cAg>cGg p.Q708R ABCA3_ENST00000382381.3_Missense_Mutation_p.Q650R NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 708 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Q708R(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TTTCTGCCGCTGAAGAAGATC 0.622000 62 29 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73850051 73850051 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr8:73850051G>A ENST00000523207.1 + 3 3049 c.2461G>A c.(2461-2463)Gca>Aca p.A821T NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 821 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GCTCCCAGGGGCAAGGGAGGA 0.507000 45 77 0 0 1 0 0 CDCA4 55038 broad.mit.edu 37 14 105478059 105478059 + Missense_Mutation SNP G G C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr14:105478059G>C ENST00000336219.3 - 2 363 c.208C>G c.(208-210)Caa>Gaa p.Q70E CDCA4_ENST00000392590.3_Missense_Mutation_p.Q70E NM_017955.3 NP_060425.2 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 70 SERTA. nucleus endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) ATCTCCTCTTGGATCTGCCGG 0.632000 43 50 0 0 1 0 0 PPP2R2D 55844 broad.mit.edu 37 10 133761152 133761152 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr10:133761152G>A ENST00000422256.2 + 6 741 c.256G>A c.(256-258)Ggt>Agt p.G86S PPP2R2D_ENST00000470416.1_3'UTR Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, delta 56 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) ACTACCTGTCGGTGAAGGTGT 0.512000 36 14 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6897559 6897559 + Splice_Site SNP G G T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr19:6897559G>T ENST00000312053.4 + 5 551 c.e5+1 EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000601198.1_Splice_Site|EMR1_ENST00000381404.4_Splice_Site NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ACCTGTGAAGGTATCCATGAC 0.423000 38 37 2.87052e-16 3.17268e-16 1 1 0 MFHAS1 9258 broad.mit.edu 37 8 8748872 8748872 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr8:8748872G>A ENST00000276282.6 - 1 2283 c.1697C>T c.(1696-1698)gCg>gTg p.A566V NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 566 Roc. endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CAGTCCCTCCGCGTCGTGCTT 0.652000 24 51 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10774533 10774533 + Missense_Mutation SNP G G C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr12:10774533G>C ENST00000075503.3 - 10 1526 c.1006C>G c.(1006-1008)Cta>Gta p.L336V NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 336 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AGATGCTCTAGGATGCTGGTA 0.418000 HNSCC(73;0.22) 42 87 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 3 14 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92797181 92797181 + Silent SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr13:92797181T>C ENST00000377067.3 + 7 1872 c.1500T>C c.(1498-1500)gaT>gaC p.D500D NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 500 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ACTGTGATGATGAAGATGGTT 0.463000 68 18 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225342966 225342966 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr2:225342966C>T ENST00000264414.4 - 15 2464 c.2126G>A c.(2125-2127)cGg>cAg p.R709Q CUL3_ENST00000409096.1_Missense_Mutation_p.R685Q|CUL3_ENST00000409777.1_Missense_Mutation_p.R685Q|CUL3_ENST00000344951.4_Missense_Mutation_p.R643Q NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 709 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.R709Q(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTTCATTATCCGCACTATAGC 0.408000 34 5 0 0 1 0 0 TMEM123 114908 broad.mit.edu 37 11 102272718 102272718 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:102272718G>A ENST00000398136.2 - 3 797 c.377C>T c.(376-378)tCt>tTt p.S126F TMEM123_ENST00000532161.1_Missense_Mutation_p.S38F|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.S107F NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 126 Thr-rich. oncosis external side of plasma membrane|integral to membrane receptor activity breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) TGATATCTGAGATGTGTTCTG 0.398000 49 121 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100801716 100801716 + Silent SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr15:100801716C>A ENST00000268070.4 - 6 1104 c.999G>T c.(997-999)ccG>ccT p.P333P NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 333 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCACCAGGGGCGGGTCGTCCT 0.562000 9 39 7.48243e-07 7.93591e-07 1 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1718076 1718076 + Silent SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr16:1718076C>A ENST00000397412.3 + 18 3315 c.3216C>A c.(3214-3216)gtC>gtA p.V1072V CRAMP1L_ENST00000436138.3_Silent_p.V1069V|CRAMP1L_ENST00000293925.5_Silent_p.V1072V|CRAMP1L_ENST00000262317.4_Silent_p.V450V|LA16c-431H6.6_ENST00000454337.1_3'UTR Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1072 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CACCAGACGTCTCTGCTCTGC 0.612000 9 44 1.12685e-05 1.17148e-05 1 1 0 SYNE3 161176 broad.mit.edu 37 14 95923521 95923521 + Missense_Mutation SNP G G T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr14:95923521G>T ENST00000334258.5 - 4 796 c.782C>A c.(781-783)aCa>aAa p.T261K SYNE3_ENST00000553340.1_Missense_Mutation_p.T261K|SYNE3_ENST00000557275.1_Missense_Mutation_p.T261K NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 TACCTGCAGTGTGGAGAGGCG 0.542000 59 113 1.44317e-28 1.6652e-28 1 1 0 ADAP1 11033 broad.mit.edu 37 7 959664 959664 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:959664C>T ENST00000265846.5 - 4 548 c.329G>A c.(328-330)cGg>cAg p.R110Q ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q NM_006869.2 NP_006860.1 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 110 Arf-GAP. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding p.R110Q(1) endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 GTACTTGGCCCGGATCCACTG 0.682000 10 17 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145640051 145640051 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr4:145640051G>A ENST00000296575.3 + 11 2358 c.1703G>A c.(1702-1704)aGt>aAt p.S568N NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 568 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding p.S568N(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TTATCAAGCAGTAAAAGTATG 0.333000 29 9 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72489877 72489877 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr10:72489877G>A ENST00000373208.1 + 6 974 c.974G>A c.(973-975)cGc>cAc p.R325H ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R325H NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 325 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R325H(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CTGATCGAGCGCGGGAACCCC 0.652000 38 21 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103155716 103155716 + Missense_Mutation SNP C C G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:103155716C>G ENST00000424685.2 - 50 8194 c.8035G>C c.(8035-8037)Gta>Cta p.V2679L RELN_ENST00000428762.1_Missense_Mutation_p.V2679L|RELN_ENST00000343529.5_Missense_Mutation_p.V2679L P78509 RELN_HUMAN reelin 2679 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.V2679L(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGCTGGGGTACTGGGGCGCTG 0.552000 23 31 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45353231 45353231 + Missense_Mutation SNP G G A rs146123836 TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr5:45353231G>A ENST00000303230.4 - 5 1405 c.1348C>T c.(1348-1350)Ctc>Ttc p.L450F NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 450 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGTTCATTGAGAATATTTTCC 0.338000 37 67 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49942697 49942697 + Silent SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr12:49942697C>T ENST00000257981.6 + 8 1469 c.1209C>T c.(1207-1209)gcC>gcT p.A403A NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 403 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGGAGCTGGCCCGCCGACTGG 0.692000 3 15 0 0 1 0 0 NME1 4830 broad.mit.edu 37 17 49237412 49237412 + Silent SNP A A G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:49237412A>G ENST00000511355.1 + 3 284 c.198A>G c.(196-198)aaA>aaG p.K66K NME1_ENST00000336097.3_Silent_p.K91K|NME1_ENST00000393196.3_Silent_p.K66K|NME2_ENST00000376392.6_Silent_p.K66K|NME1_ENST00000480143.1_Silent_p.K91K|NME2_ENST00000393193.2_Silent_p.K66K|NME2_ENST00000555572.1_Silent_p.K91K|NME1_ENST00000013034.3_Silent_p.K91K NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GCCTGGTGAAATACATGCACT 0.488000 70 105 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134151992 134151992 + Missense_Mutation SNP A A G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:134151992A>G ENST00000389887.5 + 5 3001 c.505A>G c.(505-507)Atg>Gtg p.M169V GLB1L3_ENST00000431683.2_Missense_Mutation_p.M169V Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 169 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTGCAGTGAGATGGACCTCGG 0.552000 11 6 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130415450 130415450 + Silent SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr6:130415450C>T ENST00000529410.1 + 20 2153 c.1674C>T c.(1672-1674)tgC>tgT p.C558C L3MBTL3_ENST00000368139.2_Silent_p.C533C|L3MBTL3_ENST00000533560.1_Silent_p.C533C|L3MBTL3_ENST00000361794.2_Silent_p.C558C|L3MBTL3_ENST00000526019.1_Silent_p.C533C|L3MBTL3_ENST00000368136.2_Silent_p.C558C Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 558 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ATGGTGGATGCTCAACCCCGG 0.448000 23 28 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57193797 57193797 + Silent SNP A A G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:57193797A>G ENST00000331162.4 - 4 460 c.190T>C c.(190-192)Ttg>Ctg p.L64L NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CAGGTGATCAAGTCTGGCTTA 0.368000 39 104 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42745255 42745255 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:42745255G>A ENST00000409122.2 + 5 2118 c.1976G>A c.(1975-1977)cGc>cAc p.R659H C17orf104_ENST00000409464.1_Missense_Mutation_p.R493H|C17orf104_ENST00000359945.3_Missense_Mutation_p.R659H NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 659 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 CGTGTGAATCGCACACAAGTG 0.398000 26 32 0 0 1 0 0 AMD1 262 broad.mit.edu 37 6 111214719 111214719 + Missense_Mutation SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr6:111214719T>C ENST00000368885.3 + 9 1241 c.905T>C c.(904-906)aTt>aCt p.I302T AMD1_ENST00000451850.2_Missense_Mutation_p.I182T|AMD1_ENST00000368882.3_Missense_Mutation_p.I154T|AMD1_ENST00000368877.5_Missense_Mutation_p.I273T|AMD1_ENST00000368876.1_Missense_Mutation_p.I233T NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 302 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) CCCCAGAAGATTGAAGGTTTT 0.388000 60 62 0 0 1 0 0 VAX2 25806 broad.mit.edu 37 2 71160180 71160180 + Missense_Mutation SNP C C A rs140956448 byFrequency TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr2:71160180C>A ENST00000234392.2 + 3 751 c.719C>A c.(718-720)cCa>cAa p.P240Q NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 240 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 GCGTCCCCCCCACTGCCGCCC 0.682000 4 44 0.00909568 0.00918314 1 1 0 EXOC7 23265 broad.mit.edu 37 17 74097810 74097810 + Silent SNP G G T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:74097810G>T ENST00000607838.1 - 3 355 c.261C>A c.(259-261)gtC>gtA p.V87V EXOC7_ENST00000467929.2_Silent_p.V46V|EXOC7_ENST00000411744.2_Silent_p.V87V|EXOC7_ENST00000406660.3_Silent_p.V87V|EXOC7_ENST00000405575.4_Silent_p.V87V|EXOC7_ENST00000335146.7_Silent_p.V87V|EXOC7_ENST00000332065.5_Silent_p.V87V|EXOC7_ENST00000589210.1_Silent_p.V87V NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 87 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) AGTAGCTGATGACATGGTCCA 0.547000 67 99 1.08241e-25 1.22207e-25 1 1 0 UBR2 23304 broad.mit.edu 37 6 42608004 42608004 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr6:42608004C>T ENST00000372899.1 + 16 2174 c.1916C>T c.(1915-1917)cCt>cTt p.P639L UBR2_ENST00000372883.3_Missense_Mutation_p.P143L|UBR2_ENST00000372901.1_Missense_Mutation_p.P639L NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 639 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAGCTCCTACCTCTAGTAAGT 0.303000 18 27 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43262351 43262351 + Missense_Mutation SNP A A T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr18:43262351A>T ENST00000255226.6 + 20 3446 c.2630A>T c.(2629-2631)aAt>aTt p.N877I RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.N877I|SLC14A2_ENST00000589658.1_Missense_Mutation_p.N354I NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 877 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity p.N877I(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTGACGACCAATAACCCCGCC 0.542000 151 64 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155449890 155449890 + Missense_Mutation SNP G G C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr1:155449890G>C ENST00000368346.3 - 3 3410 c.2771C>G c.(2770-2772)tCt>tGt p.S924C ASH1L_ENST00000392403.3_Missense_Mutation_p.S924C Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 924 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.S924C(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GTCACTTTCAGATTCTAGCTT 0.473000 109 114 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30703211 30703211 + Missense_Mutation SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr8:30703211C>A ENST00000256246.2 - 1 3397 c.3323G>T c.(3322-3324)aGt>aTt p.S1108I NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1108 Ser-rich. p.S1108I(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GCTAGCCATACTTTTCCTAGA 0.393000 41 65 6.33695e-27 7.23239e-27 1 1 0 NOX5 79400 broad.mit.edu 37 15 69347794 69347794 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr15:69347794C>T ENST00000260364.5 + 16 2367 c.2066C>T c.(2065-2067)aCg>aTg p.T689M NOX5_ENST00000530406.2_Missense_Mutation_p.T679M|NOX5_ENST00000448182.3_Missense_Mutation_p.T661M|NOX5_ENST00000388866.3_Missense_Mutation_p.T707M|NOX5_ENST00000455873.3_Missense_Mutation_p.T672M Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 707 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GACTCCATCACGGGGCTGCAG 0.577000 32 27 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33590472 33590472 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr2:33590472G>A ENST00000404816.2 + 31 4966 c.4613G>A c.(4612-4614)cGg>cAg p.R1538Q LTBP1_ENST00000272273.5_Missense_Mutation_p.R436Q|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1212Q|LTBP1_ENST00000418533.2_Missense_Mutation_p.R1170Q|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1213Q|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1539Q|LTBP1_ENST00000404525.1_Missense_Mutation_p.R1159Q|LTBP1_ENST00000402934.1_Missense_Mutation_p.R1157Q Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1538 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTGTGTAGCCGGCCTCTTGTG 0.498000 37 27 0 0 1 0 0 HOMER3 9454 broad.mit.edu 37 19 19049612 19049612 + Silent SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr19:19049612C>T ENST00000539827.1 - 2 748 c.96G>A c.(94-96)aaG>aaA p.K32K HOMER3_ENST00000392351.3_Silent_p.K32K|HOMER3_ENST00000355887.6_Silent_p.K32K|HOMER3_ENST00000542541.2_Silent_p.K32K|HOMER3_ENST00000594439.1_Silent_p.K32K|HOMER3_ENST00000221222.11_Silent_p.K32K|HOMER3_ENST00000433218.2_Silent_p.K32K|HOMER3_ENST00000594794.1_Intron Q9NSC5 HOME3_HUMAN homer homolog 3 (Drosophila) 32 WH1. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) TGAGTGCGTGCTTGCCCGCTG 0.607000 9 9 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79387450 79387450 + Silent SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr1:79387450G>A ENST00000370742.3 - 9 1168 c.1105C>T c.(1105-1107)Cta>Tta p.L369L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 369 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AATGCACATAGACTCCTATAC 0.378000 27 8 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995557 32995557 + Silent SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:32995557T>C ENST00000330953.5 + 2 811 c.643T>C c.(643-645)Tta>Cta p.L215L NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 215 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 GGTGATCCCCTTAGGGATCAT 0.473000 92 22 0 0 1 0 0 RPL32P3 132241 broad.mit.edu 37 3 129115896 129115896 + RNA SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:129115896T>C ENST00000514355.1 - 0 499 lung(1) 1 GATTTTGACATATCGGTCTGA 0.493000 183 274 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113559376 113559376 + Silent SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr12:113559376C>A ENST00000546530.1 - 6 651 c.366G>T c.(364-366)ctG>ctT p.L122L RASAL1_ENST00000261729.5_Silent_p.L122L|RASAL1_ENST00000446861.3_Silent_p.L122L|RASAL1_ENST00000548055.1_Silent_p.L122L|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 122 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TCTGCACTGACAGGCAGATCT 0.567000 45 41 1.6237e-14 1.77592e-14 1 1 0 NMD3 51068 broad.mit.edu 37 3 160942823 160942823 + Silent SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:160942823C>T ENST00000460469.1 + 2 605 c.150C>T c.(148-150)gtC>gtT p.V50V NMD3_ENST00000351193.2_Silent_p.V50V|NMD3_ENST00000472947.1_Silent_p.V50V|NMD3_ENST00000478160.1_Intron Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 50 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CGAAACAAGTCTCGATTTCGT 0.418000 57 130 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951816 119951816 + Missense_Mutation SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr4:119951816C>A ENST00000307142.4 + 4 2082 c.1886C>A c.(1885-1887)cCt>cAt p.P629H SYNPO2_ENST00000429713.2_Missense_Mutation_p.P629H|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P629H|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 629 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACTCCTCCCCCTGACGCCTTC 0.607000 57 24 1.70232e-10 1.84271e-10 1 1 0 RPL12P38 645688 broad.mit.edu 37 17 58512697 58512697 + RNA SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:58512697G>A ENST00000588627.1 - 0 660 TCCGGCTTTGGAAAAGCAGGT 0.507000 19 19 0 0 1 0 0 SLC35F5 80255 broad.mit.edu 37 2 114482997 114482997 + Missense_Mutation SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr2:114482997T>C ENST00000245680.2 - 12 1621 c.1208A>G c.(1207-1209)aAt>aGt p.N403S SLC35F5_ENST00000470204.2_5'UTR NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 403 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 AATAAGGCCATTAATGATAAT 0.338000 58 47 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5613479 5613479 + Missense_Mutation SNP C C G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr6:5613479C>G ENST00000324331.6 + 6 1479 c.1143C>G c.(1141-1143)ttC>ttG p.F381L FARS2_ENST00000274680.4_Missense_Mutation_p.F381L O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 381 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) AAAATGATTTCTATGACTTAG 0.383000 20 61 0 0 1 0 0 SLC25A6 293 broad.mit.edu 37 X 1506193 1506193 + Missense_Mutation SNP T T A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chrX:1506193T>A ENST00000381401.5 - 3 1432 c.718A>T c.(718-720)Atg>Ttg p.M240L NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 240 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) CCGGACTGCATCATCATGCGC 0.677000 35 23 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978841 148978841 + Missense_Mutation SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:148978841C>A ENST00000434415.1 + 6 1211 c.1048C>A c.(1048-1050)Ccc>Acc p.P350T ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 350 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GCGGGCATTCCCCTGCCCCGA 0.731000 5 4 0.0215528 0.0215528 1 1 0 IPO7 10527 broad.mit.edu 37 11 9455160 9455160 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:9455160C>T ENST00000379719.3 + 17 2067 c.1925C>T c.(1924-1926)aCt>aTt p.T642I NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 642 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GTCATTGGTACTGTTTTACAA 0.348000 31 19 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133602448 133602448 + Missense_Mutation SNP A A G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:133602448A>G ENST00000253861.4 + 13 2013 c.1984A>G c.(1984-1986)Aaa>Gaa p.K662E EXOC4_ENST00000545148.1_Missense_Mutation_p.K272E|EXOC4_ENST00000539845.1_Missense_Mutation_p.K561E|EXOC4_ENST00000460346.1_3'UTR NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 662 vesicle docking involved in exocytosis exocyst protein N-terminus binding p.K662E(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GGCTCAACCCAAACAGCTGAG 0.408000 47 77 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31541612 31541612 + Nonsense_Mutation SNP T T A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:31541612T>A ENST00000395934.2 + 2 240 c.233T>A c.(232-234)tTa>tAa p.L78* ELP4_ENST00000379163.5_Nonsense_Mutation_p.L78*|ELP4_ENST00000350638.5_Nonsense_Mutation_p.L78* Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 78 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding p.L78*(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GGTGGAGGTTTAGCCGTTGGA 0.348000 11 35 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3182212 3182212 + Silent SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:3182212G>A ENST00000408891.2 - 1 56 c.18C>T c.(16-18)ctC>ctT p.L6L RP11-64J4.2_ENST00000573491.1_RNA NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 6 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CTGGCTCCATGAGTTTCTGTA 0.463000 41 45 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187504 152187504 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr1:152187504G>A ENST00000368801.2 - 3 6676 c.6601C>T c.(6601-6603)Cat>Tat p.H2201Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2201 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGACCCATGTTGGCCGTGG 0.617000 64 1027 0 0 1 0 0 TUBB3 10381 broad.mit.edu 37 16 90001717 90001717 + Silent SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr16:90001717G>A ENST00000304984.5 + 3 2937 c.642G>A c.(640-642)gtG>gtA p.V214V TUBB3_ENST00000556922.1_Silent_p.V633V|TUBB3_ENST00000554444.1_Silent_p.V214V|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Silent_p.V286V Q13509 TBB3_HUMAN tubulin, beta 3 class III 286 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCCTGACCGTGCCCGAGCTCA 0.697000 7 100 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1269522 1269522 + Missense_Mutation SNP A A T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:1269522A>T ENST00000446702.2 + 4 830 c.203A>T c.(202-204)gAc>gTc p.D68V CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Missense_Mutation_p.D68V Q9UQ52 CNTN6_HUMAN contactin 6 68 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AATGGCACAGACATTGATTTT 0.363000 50 14 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46897149 46897149 + Silent SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:46897149G>A ENST00000378623.1 - 27 4025 c.3783C>T c.(3781-3783)ctC>ctT p.L1261L NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1261 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TATAGGAGTCGAGCAGGGTGA 0.567000 25 51 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118373938 118373938 + Missense_Mutation SNP A A G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr11:118373938A>G ENST00000534358.1 + 27 7354 c.7331A>G c.(7330-7332)cAt>cGt p.H2444R KMT2A_ENST00000354520.4_Missense_Mutation_p.H2403R|KMT2A_ENST00000389506.5_Missense_Mutation_p.H2441R NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AAAGAAAAGCATTCCAGTAAA 0.393000 27 60 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049828 184049828 + Silent SNP G G T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:184049828G>T ENST00000342981.4 + 31 4989 c.4575G>T c.(4573-4575)gcG>gcT p.A1525A EIF4G1_ENST00000382330.3_Silent_p.A1531A|EIF4G1_ENST00000441154.1_Silent_p.A1361A|EIF4G1_ENST00000319274.6_Silent_p.A1524A|EIF4G1_ENST00000350481.5_Silent_p.A1360A|EIF4G1_ENST00000424196.1_Silent_p.A1531A|EIF4G1_ENST00000414031.1_Silent_p.A1484A|EIF4G1_ENST00000435046.2_Silent_p.A1328A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.A1437A|EIF4G1_ENST00000427845.1_Silent_p.A1438A|EIF4G1_ENST00000352767.3_Silent_p.A1531A|EIF4G1_ENST00000434061.2_Silent_p.A1329A|EIF4G1_ENST00000411531.1_Silent_p.A1485A|EIF4G1_ENST00000346169.2_Silent_p.A1524A NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1524 EIF4A-binding.|W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCTACAGGCGCTCTACGCCC 0.592000 24 88 9.86323e-18 1.10174e-17 1 1 0 TNXB 7148 broad.mit.edu 37 6 32063534 32063534 + Missense_Mutation SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr6:32063534C>A ENST00000375244.3 - 3 2297 c.2096G>T c.(2095-2097)cGg>cTg p.R699L TNXB_ENST00000375247.2_Missense_Mutation_p.R699L|TNXB_ENST00000479795.1_Missense_Mutation_p.R699L P22105 TENX_HUMAN tenascin XB 699 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTGGCCTGCCCGGCACAGTTC 0.687000 24 15 1.85244e-09 1.98476e-09 1 1 0 RASA1 5921 broad.mit.edu 37 5 86676366 86676366 + Nonsense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr5:86676366C>T ENST00000456692.2 + 20 2228 c.2113C>T c.(2113-2115)Cag>Tag p.Q705* RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q716*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q715*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q882* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 882 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding p.Q882*(1) NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GAAATCTGTTCAGCATAAGTG 0.363000 57 20 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169831259 169831259 + Missense_Mutation SNP G G C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:169831259G>C ENST00000494943.1 - 11 2274 c.2206C>G c.(2206-2208)Ctt>Gtt p.L736V PHC3_ENST00000467570.1_Missense_Mutation_p.L695V|PHC3_ENST00000495893.1_Missense_Mutation_p.L748V Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 736 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTATCCAAAAGAGGCCGTTTT 0.363000 24 39 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201972573 201972573 + Missense_Mutation SNP A A T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr1:201972573A>T ENST00000295640.4 + 9 1678 c.1635A>T c.(1633-1635)aaA>aaT p.K545N RNPEP_ENST00000367286.3_Missense_Mutation_p.K506N|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 545 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding p.K545N(1) breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCCTCCAGAAATCCCCTCTCC 0.537000 17 29 0 0 1 0 0 STX19 415117 broad.mit.edu 37 3 93733420 93733420 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:93733420G>A ENST00000315099.2 - 2 950 c.694C>T c.(694-696)Ctt>Ttt p.L232F ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 232 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 TGAATGAAAAGATCCCTTAAA 0.318000 23 45 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704016 113704016 + Missense_Mutation SNP T T C TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr9:113704016T>C ENST00000374431.3 - 4 861 c.478A>G c.(478-480)Agc>Ggc p.S160G LPAR1_ENST00000541779.1_Missense_Mutation_p.S161G|LPAR1_ENST00000538760.1_Missense_Mutation_p.S161G|LPAR1_ENST00000374430.2_Missense_Mutation_p.S160G|LPAR1_ENST00000358883.4_Missense_Mutation_p.S160G NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 160 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 CGCCGGTTGCTCATCCGTGTG 0.527000 75 82 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236228283 236228283 + Nonsense_Mutation SNP C C A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr1:236228283C>A ENST00000264187.6 - 1 179 c.97G>T c.(97-99)Gag>Tag p.E33* NID1_ENST00000366595.3_Nonsense_Mutation_p.E33* NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 33 EL -> SS (in Ref. 2; CAA57709). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GGAAAGAGCTCCTGGCGGCTC 0.701000 4 5 0.00024832 0.000253142 1 1 0 JAK3 3718 broad.mit.edu 37 19 17951143 17951143 + Missense_Mutation SNP A A T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr19:17951143A>T ENST00000458235.1 - 9 1249 c.1150T>A c.(1150-1152)Ttt>Att p.F384I JAK3_ENST00000534444.1_Missense_Mutation_p.F384I|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.F384I NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 384 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.F384I(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 TTGATGGCAAAGTCCAGACTG 0.562000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 16 24 0 0 1 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409583 59409583 + Missense_Mutation SNP G G A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr8:59409583G>A ENST00000301645.3 - 3 625 c.488C>T c.(487-489)aCc>aTc p.T163I NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 163 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CCAGGCAGCGGTCTTTGAGTT 0.483000 Neonatal Giant Cell Hepatitis 96 126 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109876392 109876392 + Missense_Mutation SNP A A G TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr12:109876392A>G ENST00000310903.5 + 23 2319 c.2213A>G c.(2212-2214)cAa>cGa p.Q738R MYO1H_ENST00000431443.2_Missense_Mutation_p.Q748R B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 AAGGCAATCCAAAGGAGAAAG 0.522000 6 17 0 0 1 0 0 CROCCP3 114819 broad.mit.edu 37 1 16812970 16812970 + RNA DEL C C - rs150878633 by1000genomes TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr1:16812970delC ENST00000263511.4 - 0 1341 NR_023386.1 TGCTGCTGGGCCAGGTCCTTC 0.647 2 4 --- --- --- --- AQP12A 375318 broad.mit.edu 37 2 241631786 241631786 + Frame_Shift_Del DEL G G - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr2:241631786delG ENST00000429564.1 + 2 518 c.455delG c.(454-456)acfs p.S153fs AQP12A_ENST00000337801.4_Frame_Shift_Del_p.S141fs Q8IXF9 AQ12A_HUMAN aquaporin 12A 141 integral to membrane transporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(7) 14 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CAGAGCTGCAGCTCGGCCCTG 0.692 2 4 --- --- --- --- CELSR3 1951 broad.mit.edu 37 3 48698278 48698281 + Frame_Shift_Del DEL CTGT CTGT - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:48698278_48698281delCTGT ENST00000544264.1 - 1 2067_2070 c.1787_1790delACAG c.(1786-1791)gcfs p.DS596fs CELSR3_ENST00000164024.4_Frame_Shift_Del_p.DS596fs Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 596 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.D596fs*94(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCAGTGAGGCTGTCGATGGCAAA 0.618 24 13 --- --- --- --- ZPLD1 131368 broad.mit.edu 37 3 102176697 102176697 + Splice_Site DEL C C - rs140908535 TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:102176697delC ENST00000306176.1 + 5 730 c.630_splice c.e5+1 p.N210_splice ZPLD1_ENST00000491959.1_Splice_Site_p.N194_splice|ZPLD1_ENST00000466937.1_Splice_Site_p.N194_splice NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 194 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TCCTTTATAACGTAAGTTGAT 0.368 8 203 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 7 220 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153253749 153253750 + Splice_Site INS - - T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr4:153253749_153253750insT ENST00000281708.4 - 6 2212_2213 c.985_splice c.e6+1 p.G328_splice FBXW7_ENST00000393956.3_Splice_Site_p.G152_splice|FBXW7_ENST00000263981.5_Splice_Site_p.G248_splice|FBXW7_ENST00000603548.1_Splice_Site_p.G328_splice|FBXW7_ENST00000296555.5_Splice_Site_p.G210_splice|FBXW7_ENST00000603841.1_Splice_Site_p.G328_splice NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 328 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.I330fs*2(2)|p.I91fs*2(1)|p.?(1)|p.I250fs*2(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GAACCTTACCCTCTTCTTTGCA 0.366 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 27 9 --- --- --- --- DPY19L2P2 349152 broad.mit.edu 37 7 102883498 102883498 + RNA DEL A A - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr7:102883498delA ENST00000312132.4 - 0 2616 GTACCACTGTAAAAAAAAAAA 0.284 3 5 --- --- --- --- RBMS2 5939 broad.mit.edu 37 12 56975859 56975860 + Frame_Shift_Ins INS - - A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr12:56975859_56975860insA ENST00000262031.5 + 9 891_892 c.796_797insA c.(796-798)taafs p.*266fs RBMS2_ENST00000550726.1_Frame_Shift_Ins_p.*141fs|RBMS2_ENST00000542360.1_Frame_Shift_Ins_p.*121fs|RBMS2_ENST00000552247.2_Frame_Shift_Ins_p.*266fs NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 266 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 CCCAGCCCCCTATAACATCACC 0.510 56 156 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900348 28900348 + RNA DEL G G - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr15:28900348delG ENST00000528584.1 + 0 14 NR_036443.1 aaaaaaaaaagaaaaTAACAA 0.403 4 2 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576862 7576863 + Frame_Shift_Ins INS - - A TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:7576862_7576863insA ENST00000420246.2 - 9 1115_1116 c.983_984insT c.(982-984)tacfs p.Y328fs TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y328fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 328 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; 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.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(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) CCTGAAGGGTGAAATATTCTCC 0.441 111 """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) 49 25 --- --- --- --- SSTR2 6752 broad.mit.edu 37 17 71165779 71165779 + Frame_Shift_Del DEL C C - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr17:71165779delC ENST00000357585.2 + 2 690 c.321delC c.(319-321)cafs p.H107fs RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Frame_Shift_Del_p.H107fs NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 107 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) CTCTGGTCCACTGGCCCTTTG 0.532 58 86 --- --- --- --- ACPT 93650 broad.mit.edu 37 19 51293714 51293716 + In_Frame_Del DEL CTG CTG - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr19:51293714_51293716delCTG ENST00000270593.1 + 1 43_45 c.43_45delCTG c.(43-45)del p.L20del ACPT_ENST00000270594.3_In_Frame_Del_p.L20del NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 20 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGGACCTCTCctgctgctgctgc 0.709 2 4 --- --- --- --- LIMK2 3985 broad.mit.edu 37 22 31663761 31663761 + Splice_Site DEL G G - TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 479b14f2-3dc4-4220-9831-8ddb453fce2c 5cd14cf8-7b80-41c9-8df6-21c42ee84fd6 g.chr22:31663761delG ENST00000331728.4 + 10 1242 c.e10-1 LIMK2_ENST00000333611.4_Splice_Site|LIMK2_ENST00000340552.4_Splice_Site|LIMK2_ENST00000406516.1_Splice_Site|LIMK2_ENST00000444929.2_Splice_Site NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CCCACCCCCAGGTGAAAGTGA 0.507 46 82 --- --- --- ---