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 GJB4 127534 broad.mit.edu 37 1 35226994 35226994 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:35226994G>A ENST00000339480.1 + 2 509 c.139G>A c.(139-141)Gag>Aag p.E47K NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 47 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GTGGGACGATGAGCAGAAGGA 0.592000 15 22 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89357518 89357518 + Missense_Mutation SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:89357518C>A ENST00000301030.4 - 5 760 c.300G>T c.(298-300)atG>atT p.M100I ANKRD11_ENST00000378330.2_Missense_Mutation_p.M100I NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 100 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CAGACAGCCCCATGCCAAACA 0.652000 30 89 1.13719e-10 1.24116e-10 1 1 0 ELAVL3 1995 broad.mit.edu 37 19 11577635 11577635 + Missense_Mutation SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:11577635A>G ENST00000359227.3 - 2 441 c.17T>C c.(16-18)cTg>cCg p.L6P ELAVL3_ENST00000438662.2_Missense_Mutation_p.L6P|CTC-398G3.6_ENST00000585656.1_Missense_Mutation_p.L160P NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 6 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CATGGCCCCCAGTATCTGCTG 0.647000 3 20 0 0 1 0 0 FAM204A 63877 broad.mit.edu 37 10 120095149 120095149 + Missense_Mutation SNP A A T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:120095149A>T ENST00000369183.4 - 4 498 c.239T>A c.(238-240)tTt>tAt p.F80Y FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.F80Y NM_022063.2 NP_071346.1 Q9H8W3 F204A_HUMAN family with sequence similarity 204, member A 80 p.F80C(1) kidney(1)|large_intestine(5)|lung(4)|ovary(1) 11 CAATTCTTGAAATTTCTATGT 0.279000 4 22 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253736 134253736 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:134253736C>G ENST00000524765.1 - 3 5003 c.459G>C c.(457-459)aaG>aaC p.K153N B3GAT1_ENST00000392580.1_Missense_Mutation_p.K153N|B3GAT1_ENST00000312527.4_Missense_Mutation_p.K153N|B3GAT1_ENST00000537389.1_Missense_Mutation_p.K166N Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 153 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CTCCGCGCAGCTTGTAGTTGC 0.731000 5 7 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 65 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73434064 73434064 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:73434064G>A ENST00000263666.4 - 10 1767 c.1653C>T c.(1651-1653)gaC>gaT p.D551D PDZRN3_ENST00000466780.1_Silent_p.D208D|PDZRN3_ENST00000462146.2_Silent_p.D208D|PDZRN3_ENST00000535920.1_Silent_p.D273D|PDZRN3_ENST00000479530.1_Silent_p.D268D NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 551 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGGTCCCACCGTCTTCGTCGT 0.567000 9 43 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7510047 7510047 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:7510047C>T ENST00000313599.3 - 19 4372 c.4315G>A c.(4315-4317)Gac>Aac p.D1439N CD163L1_ENST00000396630.1_Missense_Mutation_p.D1407N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1449N Q9NR16 C163B_HUMAN CD163 molecule-like 1 1439 extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.D1439N(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGCGATGTGTCGCTAGCATCT 0.443000 3 48 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48542418 48542418 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:48542418G>C ENST00000358350.4 - 46 6851 c.6247C>G c.(6247-6249)Ctc>Gtc p.L2083V FRYL_ENST00000503238.1_Missense_Mutation_p.L2083V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L2083V|FRYL_ENST00000507873.2_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2083 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ACAGAAATGAGTTTACTGAGG 0.393000 33 65 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791949 95791949 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:95791949G>A ENST00000260766.3 + 2 1780 c.1146G>A c.(1144-1146)ccG>ccA p.P382P PLCE1_ENST00000371380.2_Silent_p.P382P NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 382 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGGAACCCCCGTCAACAGTGG 0.468000 26 47 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119958097 119958097 + Missense_Mutation SNP G G A rs143169543 TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:119958097G>A ENST00000543831.1 + 2 304 c.55G>A c.(55-57)Gtc>Atc p.V19I HSD3B2_ENST00000369416.3_Missense_Mutation_p.V19I|HSD3B2_ENST00000471656.1_3'UTR NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 19 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) TCAGAGGATCGTCCGCCTGTT 0.517000 5 75 0 0 1 0 0 B3GALT5 10317 broad.mit.edu 37 21 41033131 41033131 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr21:41033131C>T ENST00000380620.3 + 5 1237 c.645C>T c.(643-645)tcC>tcT p.S215S B3GALT5_ENST00000398714.2_Silent_p.S215S|B3GALT5_ENST00000343118.4_Silent_p.S215S|B3GALT5_ENST00000380618.1_Silent_p.S215S|AF064860.5_ENST00000416555.1_RNA Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 215 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) CATTCTGCTCCGGCACCGGCT 0.507000 45 42 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7420445 7420445 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:7420445C>T ENST00000399429.3 - 29 2394 c.2254G>A c.(2254-2256)Gaa>Aaa p.E752K NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 752 Collagen-like 6. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCTCCAATTTCTCCTTTATCA 0.408000 21 152 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180063719 180063719 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:180063719G>C ENST00000367607.3 + 34 8897 c.8479G>C c.(8479-8481)Gag>Cag p.E2827Q CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2827 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGAAAAAGAAGAGATTTCCTC 0.393000 10 42 0 0 1 0 0 ZFR2 23217 broad.mit.edu 37 19 3816705 3816705 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:3816705C>T ENST00000262961.4 - 13 2080 c.2070G>A c.(2068-2070)cgG>cgA p.R690R NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 690 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GGGCGATCCTCCGCAGCAGGC 0.687000 17 15 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3100318 3100318 + Silent SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:3100318T>C ENST00000336577.4 + 4 669 c.432T>C c.(430-432)taT>taC p.Y144Y MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 144 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 TCATGAGCTATGCCCTGATGG 0.642000 18 53 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 80171626 80171626 + Missense_Mutation SNP A A T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:80171626A>T ENST00000265081.6 + 24 3439 c.3359A>T c.(3358-3360)cAg>cTg p.Q1120L NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 1120 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CAAGACCTGCAGAAGTGGACA 0.328000 Mismatch excision repair (MMR) 11 38 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109978085 109978085 + Silent SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr6:109978085T>C ENST00000424296.2 - 8 709 c.633A>G c.(631-633)gcA>gcG p.A211A AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Silent_p.A211A|AK9_ENST00000285397.5_Silent_p.A211A NM_001145128.2 NP_001138600.2 adenylate kinase 9 CGGCAATAAATGCCTAAATGG 0.343000 4 26 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101834137 101834137 + Missense_Mutation SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:101834137A>G ENST00000263468.8 + 6 2641 c.2371A>G c.(2371-2373)Aca>Gca p.T791A KIAA1377_ENST00000537689.1_Missense_Mutation_p.T592A NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 791 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CAACATATTTACACAAGCTCA 0.373000 32 64 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103449974 103449974 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr14:103449974G>C ENST00000361246.2 - 7 1098 c.810C>G c.(808-810)tgC>tgG p.C270W NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 270 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCTCATACATGCAGACACCCA 0.522000 36 58 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47597912 47597912 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:47597912G>A ENST00000273857.4 - 22 2954 c.2955C>T c.(2953-2955)agC>agT p.S985S CORIN_ENST00000508498.1_Silent_p.S846S|CORIN_ENST00000505909.1_Silent_p.S948S|CORIN_ENST00000502252.1_Silent_p.S918S NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 985 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GAGGCCCACCGCTGTCACCCT 0.502000 8 46 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87170747 87170747 + Nonsense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:87170747G>A ENST00000265724.3 - 19 2662 c.2245C>T c.(2245-2247)Cga>Tga p.R749* ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685* NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 749 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.R749*(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTATTCTGTCGTTTTGTTTCA 0.318000 17 63 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912650 32912650 + Silent SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr13:32912650T>C ENST00000544455.1 + 11 4385 c.4158T>C c.(4156-4158)gaT>gaC p.D1386D BRCA2_ENST00000380152.3_Silent_p.D1386D NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1386 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATTTGTCAGATTTAACTTTTT 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 26 27 0 0 1 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843668 22843668 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:22843668T>C ENST00000360412.2 - 4 831 c.56A>G c.(55-57)gAa>gGa p.E19G ZNF280B_ENST00000406426.1_Missense_Mutation_p.E19G NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGTTTGGTTTCTTGTATGTT 0.398000 17 51 0 0 1 0 0 MIR379 494328 broad.mit.edu 37 14 101488408 101488408 + RNA SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr14:101488408T>C ENST00000362218.3 + 0 43 NR_029871.1 CCTGAAGAGATGGTAGACTAT 0.512000 4 44 0 0 1 0 0 OFD1 8481 broad.mit.edu 37 X 13776517 13776517 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chrX:13776517T>C ENST00000380567.1 + 16 2056 c.1184T>C c.(1183-1185)tTa>tCa p.L395S OFD1_ENST00000340096.6_Missense_Mutation_p.L535S|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L495S O75665 OFD1_HUMAN oral-facial-digital syndrome 1 535 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GTAAAGAGTTTAACTACTCAG 0.353000 12 6 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142718802 142718802 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr6:142718802G>C ENST00000230173.6 + 10 1953 c.1477G>C c.(1477-1479)Gaa>Caa p.E493Q GPR126_ENST00000367609.3_Missense_Mutation_p.E493Q|GPR126_ENST00000296932.8_Missense_Mutation_p.E465Q|GPR126_ENST00000367608.2_Missense_Mutation_p.E465Q NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 493 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TACTAATTTGGAAGGAAAAAT 0.403000 7 40 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 3 34 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201008965 201008965 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:201008965C>T ENST00000362061.3 - 44 5842 c.5616G>A c.(5614-5616)agG>agA p.R1872R CACNA1S_ENST00000367338.3_Silent_p.R1853R|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1872 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGCATCACAGCCTTGGAGGAA 0.637000 29 52 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53708963 53708963 + Nonsense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:53708963G>T ENST00000262135.4 - 7 941 c.848C>A c.(847-849)tCa>tAa p.S283* RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.S283*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.S283* NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 283 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TTCCATTGCTGAAAGAGCATT 0.323000 13 17 0.00010058 0.000104977 1 1 0 PDE3A 5139 broad.mit.edu 37 12 20792842 20792842 + Silent SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:20792842A>G ENST00000359062.3 + 10 2242 c.2202A>G c.(2200-2202)gaA>gaG p.E734E PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 734 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CAATTAGGGAATTTATGAATT 0.308000 15 43 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43438566 43438566 + Silent SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr18:43438566G>T ENST00000282041.5 - 41 7225 c.7191C>A c.(7189-7191)ctC>ctA p.L2397L EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2397 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TGCTTAAGATGAGCAGCACTT 0.438000 6 37 5.9392e-07 6.33736e-07 1 1 0 LPPR5 163404 broad.mit.edu 37 1 99422164 99422164 + Splice_Site SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:99422164C>G ENST00000370188.3 - 2 731 c.e2+1 LPPR5_ENST00000263177.4_Splice_Site NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN integral to membrane hydrolase activity tGAACACATACCAAGAAATCG 0.353000 4 20 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080197 5080197 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:5080197G>A ENST00000321522.2 - 1 660 c.661C>T c.(661-663)Cat>Tat p.H221Y NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CAAAGAATATGCACATAAGAA 0.398000 33 47 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677562 100677562 + Silent SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:100677562G>C ENST00000306151.4 + 3 2929 c.2865G>C c.(2863-2865)gtG>gtC p.V955V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 955 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTGACCACTTCTA 0.498000 5 558 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68364552 68364552 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:68364552T>A ENST00000295121.6 - 6 763 c.647A>T c.(646-648)gAg>gTg p.E216V WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.E216V|WDR92_ENST00000406245.2_Missense_Mutation_p.E115V NM_138458.3 NP_612467.1 Q96MX6 WDR92_HUMAN WD repeat domain 92 216 apoptosis|histone lysine methylation methylated histone residue binding endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 TCTGTCAAACTCCAAGCTACA 0.368000 4 29 0 0 1 0 0 GCSH 2653 broad.mit.edu 37 16 81124263 81124263 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:81124263G>C ENST00000315467.3 - 2 295 c.171C>G c.(169-171)caC>caG p.H57Q GCSH_ENST00000566566.1_Missense_Mutation_p.H57Q NM_004483.4 NP_004474.2 P23434 GCSH_HUMAN glycine cleavage system protein H (aminomethyl carrier) 57 glycine cleavage complex|mitochondrion aminomethyltransferase activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2) 5 Glycine(DB00145) TTACCCATTCGTGTTTCTCTG 0.368000 7 57 0 0 1 0 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41102669 41102669 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr17:41102669G>A ENST00000421990.2 - 17 2047 c.1702C>T c.(1702-1704)Cgg>Tgg p.R568W PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.R507W|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.R568W|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.R477W|AARSD1_ENST00000427569.2_Missense_Mutation_p.R394W NM_001136042.2 NP_001129514.2 GCCTCCATCCGCCGGCTCATC 0.577000 27 25 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28409928 28409928 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr17:28409928G>C ENST00000394835.3 + 18 3638 c.3446G>C c.(3445-3447)aGc>aCc p.S1149T EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1025T NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1149 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AATGTCTTTAGCACTGCCTAT 0.388000 18 62 0 0 1 0 0 SLC45A3 85414 broad.mit.edu 37 1 205628434 205628434 + Silent SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:205628434C>A ENST00000367145.3 - 5 1885 c.1590G>T c.(1588-1590)ctG>ctT p.L530L SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 530 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CGACCAGACCCAGGCCTGCGG 0.547000 T """ETV1, ETV5, ELK4, ERG""" prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 79 0.00307968 0.00314555 1 1 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 409 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722863 30722863 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:30722863T>C ENST00000215790.7 - 1 172 c.8A>G c.(7-9)aAg>aGg p.K3R TBC1D10A_ENST00000403477.3_Missense_Mutation_p.K3R|TBC1D10A_ENST00000490449.1_5'UTR NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 3 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TCCGTTGCTCTTCGCCATCCC 0.781000 3 13 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771596 99771596 + Missense_Mutation SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:99771596C>A ENST00000370185.3 + 7 1819 c.1322C>A c.(1321-1323)tCc>tAc p.S441Y LPPR4_ENST00000457765.1_Missense_Mutation_p.S383Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S283Y NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 441 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TCTATGGATTCCGCTCGATCA 0.498000 24 62 4.47668e-21 5.05944e-21 1 1 0 LIMCH1 22998 broad.mit.edu 37 4 41652416 41652416 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:41652416G>A ENST00000313860.7 + 13 1726 c.1672G>A c.(1672-1674)Ggg>Agg p.G558R LIMCH1_ENST00000512820.1_Missense_Mutation_p.G546R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G404R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G392R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G392R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G558R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G387R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G399R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G943R NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 558 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATAGGTAGACGGGAAAGTCAG 0.433000 11 47 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563311 22563311 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr20:22563311T>C ENST00000419308.2 - 2 753 c.551A>G c.(550-552)gAg>gGg p.E184G FOXA2_ENST00000319993.4_Missense_Mutation_p.E190G|FOXA2_ENST00000377115.4_Missense_Mutation_p.E184G NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 184 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) CTGGTAGATCTCGCTCAGCGT 0.582000 31 104 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858383 9858383 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:9858383C>T ENST00000396573.2 - 14 3327 c.3018G>A c.(3016-3018)gcG>gcA p.A1006A GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000535259.1_Silent_p.A849A|GRIN2A_ENST00000396575.2_Silent_p.A1006A|GRIN2A_ENST00000562109.1_Silent_p.A1006A NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1006 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.A1006A(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCTAGAGTTCGCTTTGGATT 0.507000 20 88 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54652230 54652230 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:54652230C>T ENST00000406403.1 + 10 2845 c.1242C>T c.(1240-1242)agC>agT p.S414S CNOT3_ENST00000358389.3_Silent_p.S233S|CNOT3_ENST00000221232.5_Silent_p.S414S O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 414 Gly/Ser-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) gtagtaacagcagtgccggtg 0.741000 7 14 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149153094 149153094 + Nonsense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:149153094G>C ENST00000247930.4 - 2 343 c.20C>G c.(19-21)tCa>tGa p.S7* NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGACAGAGGTGATGAGCGTTG 0.517000 41 22 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357568 118357568 + Missense_Mutation SNP C C T rs147786434 TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:118357568C>T ENST00000528052.1 + 8 775 c.704C>T c.(703-705)aCg>aTg p.T235M PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235M P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 235 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GGTTTTGGAACGAACCAACAG 0.463000 27 70 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38996982 38996982 + Missense_Mutation SNP G G A rs138647599 TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:38996982G>A ENST00000355481.4 + 55 8712 c.8581G>A c.(8581-8583)Gac>Aac p.D2861N RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2861 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCAGCCCCCCGACCTTAGTGC 0.607000 32 56 0 0 1 0 0 PAX9 5083 broad.mit.edu 37 14 37132577 37132577 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr14:37132577C>A ENST00000361487.6 + 2 705 c.480C>A c.(478-480)taC>taA p.Y160* PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.Y160* P55771 PAX9_HUMAN paired box 9 160 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) ACCACATCTACTCGTACCCCA 0.672000 32 62 2.47511e-08 2.67088e-08 1 1 0 TMEM117 84216 broad.mit.edu 37 12 44693489 44693489 + Missense_Mutation SNP T T G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:44693489T>G ENST00000266534.3 + 6 862 c.735T>G c.(733-735)ttT>ttG p.F245L TMEM117_ENST00000536799.1_Missense_Mutation_p.F141L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F245L NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 245 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TTGCTTCTTTTATCTTGGTCT 0.448000 36 121 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179007 65179007 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr18:65179007G>C ENST00000310045.7 - 2 4342 c.2869C>G c.(2869-2871)Ctg>Gtg p.L957V CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 947 integral to membrane isomerase activity|sulfotransferase activity 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) TATTGGGCCAGTTTACCCCTA 0.393000 20 46 0 0 1 0 0 ZNF124 7678 broad.mit.edu 37 1 247323032 247323032 + Silent SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:247323032A>G ENST00000472531.1 - 2 241 c.114T>C c.(112-114)taT>taC p.Y38Y ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000491356.1_Silent_p.Y38Y|ZNF124_ENST00000340684.6_Silent_p.Y38Y|ZNF124_ENST00000543802.2_Silent_p.Y38Y NM_001243740.1 NP_001230669.1 Q15973 ZN124_HUMAN zinc finger protein 124 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) TCACGTCTCTATAGAGATTCT 0.418000 37 47 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966391 41966391 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:41966391G>A ENST00000298919.7 + 10 1418 c.1030G>A c.(1030-1032)Gag>Aag p.E344K PDZRN4_ENST00000539469.2_Missense_Mutation_p.E346K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E604K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 604 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCAGTACAATGAGAGCCTCGT 0.493000 19 52 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203186 56203186 + Silent SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr18:56203186C>G ENST00000361673.3 - 5 4446 c.4233G>C c.(4231-4233)gtG>gtC p.V1411V RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1411 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGTACTCTATCACACTTATCT 0.473000 18 67 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135533158 135533158 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:135533158C>G ENST00000520727.1 - 14 3465 c.3166G>C c.(3166-3168)Gtg>Ctg p.V1056L ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1056L|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1006L|ZFAT_ENST00000520356.1_Missense_Mutation_p.V1056L|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1068L|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1056L NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1068 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) ATTTCCACCACCTTCAAGCCA 0.413000 5 32 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062192 66062192 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:66062192G>A ENST00000327259.4 + 2 619 c.475G>A c.(475-477)Gtg>Atg p.V159M NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 159 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CTATCACTACGTGCGGCGCAC 0.716000 5 17 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119912200 119912200 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:119912200G>T ENST00000464295.1 - 4 750 c.305C>A c.(304-306)gCt>gAt p.A102D GPR156_ENST00000461057.1_Missense_Mutation_p.A102D|GPR156_ENST00000315843.3_Missense_Mutation_p.A102D Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 102 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) AAAGAGGTAAGCGCTACTGTA 0.413000 8 81 0.27861 0.27861 1 1 0 LRMP 4033 broad.mit.edu 37 12 25243014 25243014 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:25243014G>T ENST00000354454.3 + 13 1318 c.489G>T c.(487-489)ttG>ttT p.L163F LRMP_ENST00000547044.1_Missense_Mutation_p.L163F|LRMP_ENST00000548766.1_Missense_Mutation_p.L163F NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 219 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) GATTATCTTTGGGATTTAAGT 0.398000 26 89 9.39395e-14 1.04316e-13 1 1 0 HPS1 3257 broad.mit.edu 37 10 100195517 100195517 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:100195517C>T ENST00000325103.6 - 4 363 c.130G>A c.(130-132)Gag>Aag p.E44K HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E44K|HPS1_ENST00000338546.5_Missense_Mutation_p.E44K NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 44 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) AGCTGGTCCTCCAGGGCAGGG 0.542000 Hermansky-Pudlak syndrome 22 89 0 0 1 0 0 LEPRE1 64175 broad.mit.edu 37 1 43220610 43220610 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:43220610C>T ENST00000236040.4 - 8 1315 c.1275G>A c.(1273-1275)atG>atA p.M425I LEPRE1_ENST00000296388.5_Missense_Mutation_p.M425I|LEPRE1_ENST00000397054.3_Missense_Mutation_p.M425I NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 425 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CGATTTCCTTCATAAGGTTCC 0.562000 24 47 0 0 1 0 0 C5orf55 116349 broad.mit.edu 37 5 442672 442672 + Missense_Mutation SNP T T G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:442672T>G ENST00000408966.2 - 1 586 c.266A>C c.(265-267)cAc>cCc p.H89P NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 89 extracellular region large_intestine(1)|lung(2) 3 AAACATCCGGTGGCCACCCAT 0.647000 130 132 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841233 13841233 + Silent SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:13841233A>G ENST00000265104.4 - 34 5595 c.5491T>C c.(5491-5493)Tta>Cta p.L1831L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1831 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATTCCTAATAATCCAACCTTA 0.323000 Kartagener syndrome 16 56 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32908353 32908353 + Silent SNP C C T rs117518550 by1000genomes TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:32908353C>T ENST00000324868.8 - 1 483 c.456G>A c.(454-456)gcG>gcA p.A152A NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 152 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) GGTGATTAGCCGCCAGGGCCT 0.652000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 54 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917483 4917483 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:4917483C>T ENST00000399583.3 - 2 475 c.288G>A c.(286-288)gcG>gcA p.A96A RADIL_ENST00000536091.1_Silent_p.A96A NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 96 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) ACCGCTCCAGCGCCTCCTTCA 0.682000 30 62 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668030 59668030 + Missense_Mutation SNP A A C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr17:59668030A>C ENST00000521764.1 - 1 533 c.512T>G c.(511-513)gTc>gGc p.V171G NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 171 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TGTTTCATCGACCTCTTCCTC 0.448000 90 99 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96230191 96230191 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr13:96230191C>T ENST00000376873.3 + 5 834 c.604C>T c.(604-606)Cgg>Tgg p.R202W CLDN10_ENST00000299339.2_Missense_Mutation_p.R204W NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 204 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) CATGTCTTCTCGGACAAAGTA 0.388000 7 34 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704084 113704084 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr9:113704084G>T ENST00000374431.3 - 4 793 c.410C>A c.(409-411)gCc>gAc p.A137D LPAR1_ENST00000541779.1_Missense_Mutation_p.A138D|LPAR1_ENST00000358883.4_Missense_Mutation_p.A137D|LPAR1_ENST00000538760.1_Missense_Mutation_p.A138D|LPAR1_ENST00000374430.2_Missense_Mutation_p.A137D NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 137 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 CAGTAAGTTGGCCACAGATGC 0.537000 70 172 2.02627e-32 2.31747e-32 1 1 0 MECOM 2122 broad.mit.edu 37 3 168807816 168807816 + Nonsense_Mutation SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:168807816C>A ENST00000464456.1 - 13 3982 c.2782G>T c.(2782-2784)Gag>Tag p.E928* MECOM_ENST00000264674.3_Nonsense_Mutation_p.E1002*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.E937*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.E928*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.E938*|MECOM_ENST00000494292.1_Nonsense_Mutation_p.E1116*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.E938*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.E937* NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CAACTCATCTCCAGGGCACTG 0.428000 23 546 2.27731e-05 2.40312e-05 1 1 0 MUC13 56667 broad.mit.edu 37 3 124646558 124646558 + Missense_Mutation SNP A A C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:124646558A>C ENST00000311075.3 - 2 370 c.332T>G c.(331-333)gTa>gGa p.V111G NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 111 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TAATGAATTTACATTTGTGGT 0.408000 101 214 0 0 1 0 0 FAM46B 115572 broad.mit.edu 37 1 27333400 27333400 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:27333400G>A ENST00000289166.5 - 2 478 c.313C>T c.(313-315)Cgg>Tgg p.R105W NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 105 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) CCATGCAGCCGCACACTGTGC 0.652000 4 57 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20959337 20959337 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:20959337T>C ENST00000298925.5 + 11 1240 c.1087T>C c.(1087-1089)Tgt>Cgt p.C363R NELL1_ENST00000532434.1_Missense_Mutation_p.C335R|NELL1_ENST00000357134.5_Missense_Mutation_p.C335R|NELL1_ENST00000325319.5_Missense_Mutation_p.C278R Q92832 NELL1_HUMAN NEL-like 1 (chicken) 335 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TACAGCAAAATGTATCTATGG 0.418000 13 28 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32842088 32842088 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:32842088C>T ENST00000341071.7 - 9 993 c.982G>A c.(982-984)Gag>Aag p.E328K BSDC1_ENST00000449308.1_Missense_Mutation_p.E311K|BSDC1_ENST00000446293.2_Missense_Mutation_p.E328K|BSDC1_ENST00000419121.2_Missense_Mutation_p.E255K|BSDC1_ENST00000526031.1_Missense_Mutation_p.E216K|BSDC1_ENST00000413080.1_Missense_Mutation_p.E250K|BSDC1_ENST00000455895.2_Missense_Mutation_p.E311K Q9NW68 BSDC1_HUMAN BSD domain containing 1 311 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AAGGATGCCTCTAGCAGCTTT 0.612000 32 110 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7342957 7342957 + Splice_Site SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:7342957G>A ENST00000266563.5 + 2 167 c.e2-1 PEX5_ENST00000420616.2_Splice_Site|PEX5_ENST00000266564.3_5'UTR|PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000434354.2_Splice_Site|PEX5_ENST00000455147.2_Splice_Site|PEX5_ENST00000545220.1_Intron NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GTGTCCATCAGAGAGCTGGCG 0.617000 7 116 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475069 5475069 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:5475069C>T ENST00000341449.2 + 1 432 c.351C>T c.(349-351)gcC>gcT p.A117A HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCTGCTGGCCATGAGTTTTG 0.478000 28 80 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611496 17611496 + Silent SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:17611496G>T ENST00000381869.3 - 2 2294 c.1821C>A c.(1819-1821)gcC>gcA p.A607A MTUS1_ENST00000262102.6_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 607 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle p.A607A(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TCGATTTCACGGCAGATGTTG 0.433000 4 125 0.014758 0.0148357 1 1 0 ABCB5 340273 broad.mit.edu 37 7 20782527 20782527 + Nonsense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:20782527C>T ENST00000404938.2 + 25 3704 c.3052C>T c.(3052-3054)Cga>Tga p.R1018* ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R573* NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 573 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTTAGAGTTTCGAGAAGTCTC 0.453000 9 33 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268170 52268170 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr6:52268170C>T ENST00000442253.2 + 2 333 c.159C>T c.(157-159)acC>acT p.T53T PAQR8_ENST00000360726.3_Silent_p.T53T NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 53 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) ACATCCGCACCGGCTACCGCC 0.607000 24 49 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86807624 86807624 + Nonsense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr15:86807624G>T ENST00000441037.2 + 10 1179 c.1084G>T c.(1084-1086)Gaa>Taa p.E362* AGBL1_ENST00000389298.3_Nonsense_Mutation_p.E93*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E362* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 362 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCAAGAAAGAGAATATGCTGT 0.493000 12 23 1.08611e-07 1.16543e-07 1 1 0 ABTB1 80325 broad.mit.edu 37 3 127396654 127396654 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:127396654G>A ENST00000468137.1 + 9 1187 c.571G>A c.(571-573)Gtg>Atg p.V191M ABTB1_ENST00000453791.2_Missense_Mutation_p.V191M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V191M|ABTB1_ENST00000232744.8_Missense_Mutation_p.V333M Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 333 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 CTTCACTCACGTGCTCTACTA 0.647000 7 35 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24883912 24883912 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:24883912C>T ENST00000396432.2 - 21 4329 c.3843G>A c.(3841-3843)ctG>ctA p.L1281L ARHGAP21_ENST00000320481.6_Silent_p.L1068L NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1280 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CCACTGTCTTCAGATGAGCTG 0.313000 20 25 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66361134 66361134 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:66361134C>G ENST00000273854.3 - 4 1638 c.1038G>C c.(1036-1038)gaG>gaC p.E346D EPHA5_ENST00000511294.1_Missense_Mutation_p.E346D|EPHA5_ENST00000354839.4_Missense_Mutation_p.E346D|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 346 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTGGATCAGACTCTCTCCTGA 0.468000 TSP Lung(17;0.13) 44 94 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141143525 141143525 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:141143525G>A ENST00000389484.3 - 67 11439 c.10468C>T c.(10468-10470)Ccc>Tcc p.P3490S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3490 LDL-receptor class A 25. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTGATCGGGAATACAGTTG 0.378000 TSP Lung(27;0.18) 18 84 0 0 1 0 0 STARD5 80765 broad.mit.edu 37 15 81605705 81605705 + Silent SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr15:81605705G>C ENST00000302824.6 - 6 559 c.534C>G c.(532-534)acC>acG p.T178T NM_181900.2 NP_871629.1 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer (START) domain containing 5 178 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding p.T178T(1) large_intestine(3)|ovary(1)|skin(1)|stomach(1) 6 CGCTGAGGTCGGTATGGAAGA 0.557000 22 96 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17032492 17032492 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:17032492C>T ENST00000377833.4 - 29 4256 c.4191G>A c.(4189-4191)ggG>ggA p.G1397G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1397 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCCTGTGGCCCCAGACAGCT 0.507000 4 61 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216424251 216424251 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:216424251C>T ENST00000366943.2 - 12 2547 c.2161G>A c.(2161-2163)Gtt>Att p.V721I USH2A_ENST00000366942.3_Missense_Mutation_p.V721I|USH2A_ENST00000307340.3_Missense_Mutation_p.V721I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 721 Laminin EGF-like 4. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTACCAATAACGTTTGCTTTG 0.398000 HNSCC(13;0.011) 5 27 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432661 55432661 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:55432661G>T ENST00000314259.3 + 1 48 c.19G>T c.(19-21)Gtg>Ttg p.V7L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TCAAAACAATGTGACTGAATT 0.363000 18 97 5.3912e-06 5.72067e-06 1 1 0 CTAGE9 643854 broad.mit.edu 37 6 132032136 132032136 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr6:132032136G>A ENST00000314099.8 - 1 70 c.22C>T c.(22-24)Cct>Tct p.P8S ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 8 integral to membrane endometrium(1)|lung(1) 2 TAGGGCTGAGGGGTAGCACCA 0.587000 8 38 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87369146 87369146 + Missense_Mutation SNP A A T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:87369146A>T ENST00000338056.3 + 6 960 c.549A>T c.(547-549)gaA>gaT p.E183D RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E166D|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E166D NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 183 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TGGGTGAAGAAGCAAATATGC 0.303000 13 34 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41164294 41164294 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:41164294G>A ENST00000379845.3 - 1 215 c.83C>T c.(82-84)tCa>tTa p.S28L SFRP1_ENST00000220772.3_Intron Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 0 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) AAGCCAGGCTGAGAAGGGCGC 0.582000 5 20 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42168666 42168666 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr17:42168666C>T ENST00000225983.6 - 11 1685 c.1362G>A c.(1360-1362)caG>caA p.Q454Q HDAC5_ENST00000336057.5_Silent_p.Q453Q|HDAC5_ENST00000586802.1_Silent_p.Q453Q|HDAC5_ENST00000393622.2_Silent_p.Q453Q Q9UQL6 HDAC5_HUMAN histone deacetylase 5 453 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GCTGCCGGGCCTGCTCCAGCA 0.642000 8 24 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101562619 101562619 + Silent SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr15:101562619T>C ENST00000284395.5 + 16 2275 c.1875T>C c.(1873-1875)gcT>gcC p.A625A LRRK1_ENST00000388948.3_Silent_p.A628A Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 628 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACCTGCGTGCTCAGCTGCGGA 0.547000 27 88 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102852 3102852 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:3102852G>A ENST00000378398.3 + 2 283 c.201G>A c.(199-201)ccG>ccA p.P67P PRDM16_ENST00000442529.2_Silent_p.P67P|PRDM16_ENST00000441472.2_Silent_p.P67P|PRDM16_ENST00000378391.2_Silent_p.P67P|PRDM16_ENST00000270722.5_Silent_p.P67P|PRDM16_ENST00000514189.1_Silent_p.P67P|PRDM16_ENST00000511072.1_Silent_p.P67P Q9HAZ2 PRD16_HUMAN PR domain containing 16 67 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGGGCTCGCCGTACGAGGCCC 0.672000 T EVI1 """MDS, AML""" 5 126 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179439191 179439191 + Splice_Site SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:179439191C>T ENST00000263966.3 + 8 1373 c.900_splice c.e8-1 p.T301_splice USP13_ENST00000496897.1_Splice_Site_p.T236_splice|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 301 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TTGTCTCAGACAGAGAATGGG 0.453000 19 295 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175355182 175355182 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:175355182G>C ENST00000367674.1 - 8 2471 c.1763C>G c.(1762-1764)aCt>aGt p.T588S TNR_ENST00000263525.2_Missense_Mutation_p.T588S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 588 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGTGAACTGAGTGGTGGCAGA 0.602000 29 142 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088925 43088925 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:43088925G>A ENST00000359467.3 - 5 1587 c.1473C>T c.(1471-1473)caC>caT p.H491H ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 491 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TATCTCCTATGTGAGTTCTCT 0.398000 12 76 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96469913 96469913 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:96469913G>A ENST00000453304.1 - 1 444 c.96C>T c.(94-96)agC>agT p.S32S UNC5C_ENST00000506749.1_Silent_p.S32S|UNC5C_ENST00000504962.1_Silent_p.S32S NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 32 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGCCGCTGGCGCTGAGCAGGG 0.667000 11 37 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 31 21 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176520484 176520484 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:176520484C>T ENST00000393648.2 + 10 1357 c.1175C>T c.(1174-1176)cCg>cTg p.P392L FGFR4_ENST00000393637.1_Silent_p.P403P|FGFR4_ENST00000292408.4_Silent_p.P443P|FGFR4_ENST00000292410.3_Silent_p.P403P|FGFR4_ENST00000502906.1_Silent_p.P443P P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 40 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CCAGCGGCCCCGCCTTGCTCG 0.642000 TSP Lung(9;0.080) 26 117 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37020601 37020601 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:37020601C>G ENST00000282516.8 + 26 5550 c.5051C>G c.(5050-5052)aCa>aGa p.T1684R NIPBL_ENST00000448238.2_Missense_Mutation_p.T1684R NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1684 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTTCGAGACACAACTCTGGAA 0.353000 29 117 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43367874 43367874 + RNA SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr17:43367874T>C ENST00000344686.2 - 0 346 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGGGCGATGATAGAGATGGCA 0.622000 18 13 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071915 17071915 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:17071915T>C ENST00000359963.3 - 1 1785 c.1526A>G c.(1525-1527)gAg>gGg p.E509G NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 509 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TAGCACCACCTCAGCCACTGC 0.488000 25 111 0 0 1 0 0 CENPL 91687 broad.mit.edu 37 1 173776424 173776424 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:173776424G>A ENST00000356198.2 - 4 686 c.401C>T c.(400-402)cCg>cTg p.P134L CENPL_ENST00000345664.6_Missense_Mutation_p.P134L|CENPL_ENST00000367710.3_Missense_Mutation_p.P134L NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 134 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 AAATGCTTCCGGGTCCCTTTG 0.363000 6 35 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617817 77617817 + Missense_Mutation SNP A A C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:77617817A>C ENST00000521891.2 + 2 1942 c.1494A>C c.(1492-1494)aaA>aaC p.K498N ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K498N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K498N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K498N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 498 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGGTAACAAAGATTTCCCTC 0.428000 HNSCC(33;0.089) 7 23 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23826205 23826205 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:23826205G>A ENST00000354639.3 + 19 2748 c.2284G>A c.(2284-2286)Gaa>Aaa p.E762K STK31_ENST00000355870.3_Missense_Mutation_p.E785K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E785K|STK31_ENST00000428484.1_Missense_Mutation_p.E762K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 785 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GAGAGAAGCTGAAGGAGACTC 0.423000 22 36 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997421 115997421 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:115997421G>T ENST00000264363.2 - 2 1450 c.772C>A c.(772-774)Cag>Aag p.Q258K NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 258 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCAGATCCTGAATCACCGTT 0.408000 26 91 1.64293e-13 1.81387e-13 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151849830 151849830 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:151849830C>T ENST00000355193.2 - 50 12875 c.12657G>A c.(12655-12657)cgG>cgA p.R4219R KMT2C_ENST00000262189.6_Silent_p.R4162R lysine (K)-specific methyltransferase 2C GCTGCTTCAGCCGGTAAGAGC 0.483000 4 136 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201008964 201008964 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:201008964G>T ENST00000362061.3 - 44 5843 c.5617C>A c.(5617-5619)Ctg>Atg p.L1873M CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1854M|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1873 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGGCATCACAGCCTTGGAGGA 0.637000 29 52 9.80776e-20 1.10193e-19 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48545978 48545978 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:48545978G>A ENST00000435803.1 + 49 13362 c.13338G>A c.(13336-13338)aaG>aaA p.K4446K ABCA13_ENST00000544596.1_Silent_p.K176K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4446 K -> E (in Ref. 1; AAP13576 and 4; AAO59914). transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGCTGAACAAGGACAAGATGT 0.458000 22 41 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97144014 97144014 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:97144014T>A ENST00000371247.2 - 16 1578 c.1389A>T c.(1387-1389)agA>agT p.R463S SORBS1_ENST00000306402.6_Missense_Mutation_p.R294S|SORBS1_ENST00000371246.2_Missense_Mutation_p.R485S|SORBS1_ENST00000361941.3_Missense_Mutation_p.R463S|SORBS1_ENST00000371241.1_Missense_Mutation_p.R253S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Missense_Mutation_p.R262S|SORBS1_ENST00000607232.1_Missense_Mutation_p.R252S|SORBS1_ENST00000277982.5_Missense_Mutation_p.R485S|SORBS1_ENST00000371227.4_Missense_Mutation_p.R417S|SORBS1_ENST00000371249.2_Missense_Mutation_p.R385S|SORBS1_ENST00000371245.3_Missense_Mutation_p.R348S|SORBS1_ENST00000393949.1_Missense_Mutation_p.R433S|SORBS1_ENST00000353505.5_Missense_Mutation_p.R348S|SORBS1_ENST00000347291.4_Missense_Mutation_p.R331S|SORBS1_ENST00000354106.3_Missense_Mutation_p.R433S Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 463 SoHo. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AAAATGAGTATCTGGGAGAGT 0.423000 16 77 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41751979 41751979 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:41751979G>A ENST00000352645.4 + 20 2553 c.2296G>A c.(2296-2298)Ggc>Agc p.G766S ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G766S NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 782 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TGCACAGAACGGCCGCAAGTG 0.617000 19 14 0 0 1 0 0 MYNN 55892 broad.mit.edu 37 3 169504378 169504378 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:169504378C>G ENST00000349841.5 + 8 2408 c.1745C>G c.(1744-1746)aCt>aGt p.T582S MYNN_ENST00000356716.4_Missense_Mutation_p.T582S|MYNN_ENST00000544106.1_Missense_Mutation_p.T553S NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 582 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GTCACGGATACTCAGTCTCCT 0.398000 12 233 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50869524 50869524 + Silent SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:50869524C>A ENST00000398473.2 + 16 2164 c.2052C>A c.(2050-2052)atC>atA p.I684I LARP4_ENST00000347328.5_Silent_p.I613I|LARP4_ENST00000429001.3_Silent_p.I690I|LARP4_ENST00000518444.1_Silent_p.I683I|LARP4_ENST00000293618.8_Silent_p.I613I NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 684 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GCAATATAATCCCCAGGGGAG 0.488000 61 92 2.14255e-21 2.43588e-21 1 1 0 GREB1 9687 broad.mit.edu 37 2 11770105 11770105 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:11770105T>A ENST00000381486.2 + 26 4781 c.4481T>A c.(4480-4482)tTc>tAc p.F1494Y GREB1_ENST00000234142.5_Missense_Mutation_p.F1494Y|GREB1_ENST00000396123.1_Missense_Mutation_p.F492Y NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1494 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCCTTTGCCTTCTCTTACTCC 0.592000 16 57 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 178 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71730624 71730624 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:71730624T>C ENST00000393695.3 - 9 831 c.500A>G c.(499-501)gAg>gGg p.E167G NUMA1_ENST00000358965.6_Missense_Mutation_p.E167G|NUMA1_ENST00000351960.6_Missense_Mutation_p.E167G|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 167 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TGGGGAGAGCTCTTCAGGGAA 0.483000 T RARA APL 56 93 0 0 1 0 0 CLEC12B 387837 broad.mit.edu 37 12 10167141 10167141 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:10167141C>T ENST00000396502.1 + 3 338 c.210C>T c.(208-210)gaC>gaT p.D70D CLEC12B_ENST00000338896.5_Silent_p.D70D NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 70 integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 TATCTAATGACATTAACTCAG 0.373000 16 27 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6713237 6713237 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:6713237C>G ENST00000245907.6 - 9 1058 c.966G>C c.(964-966)aaG>aaC p.K322N NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 322 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CGTACAAAGACTTCCCCACCA 0.617000 19 35 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79634636 79634636 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr9:79634636C>T ENST00000376708.1 + 1 66 c.66C>T c.(64-66)acC>acT p.T22T NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 22 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 TCTCGCTGACCGCCATGGCAA 0.642000 8 23 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99507277 99507277 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:99507277G>T ENST00000355947.2 - 3 607 c.478C>A c.(478-480)Ctt>Att p.L160I TRIM4_ENST00000354241.5_Missense_Mutation_p.L134I|TRIM4_ENST00000349062.2_Missense_Mutation_p.L134I NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 160 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) GACTTAAGAAGTTTCTCCTGC 0.378000 9 23 0.000274275 0.000283171 1 1 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31859698 31859698 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:31859698C>T ENST00000397525.1 - 5 777 c.554G>A c.(553-555)cGa>cAa p.R185Q RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R185Q|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R185Q NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 185 Arg-rich. nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTCCCTCTCTCGGTCTCTGTC 0.478000 15 64 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71691080 71691080 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:71691080T>A ENST00000254799.6 - 8 1443 c.1326A>T c.(1324-1326)gaA>gaT p.E442D GRSF1_ENST00000502323.1_Missense_Mutation_p.E280D|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.E280D|GRSF1_ENST00000545193.1_Missense_Mutation_p.E324D NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 442 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) GCACATCAGCTTCTCCAGTGG 0.483000 7 31 0 0 1 0 0 TRIM49 57093 broad.mit.edu 37 11 89531516 89531516 + Missense_Mutation SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:89531516C>A ENST00000329758.1 - 8 1469 c.1141G>T c.(1141-1143)Ggg>Tgg p.G381W TRIM49_ENST00000532501.2_Missense_Mutation_p.G304W NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 381 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTAACACACCCAAGAAGAAAG 0.438000 21 140 0.000132079 0.000137104 1 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810701 106810701 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr11:106810701G>A ENST00000526355.1 - 4 1159 c.691C>T c.(691-693)Cct>Tct p.P231S GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P231S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P231S NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 231 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTACCTTCAGGGAGCTCTTTG 0.458000 37 86 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16958063 16958063 + RNA SNP C C T rs2779441 by1000genomes TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:16958063C>T ENST00000412962.1 - 0 74 AGCCCCTCTCCATCCTCTGTC 0.652000 4 24 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 191 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92920379 92920379 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr14:92920379G>A ENST00000532405.1 + 11 1242 c.1016G>A c.(1015-1017)cGa>cAa p.R339Q SLC24A4_ENST00000351924.5_Missense_Mutation_p.R303Q|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R320Q|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R322Q|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R275Q Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 339 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCCAGGACCCGACTACGGATG 0.512000 16 44 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57951312 57951312 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:57951312C>T ENST00000564448.1 - 21 2068 c.2008G>A c.(2008-2010)Gtg>Atg p.V670M CNGB1_ENST00000251102.8_Missense_Mutation_p.V676M Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 676 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GCCCAGCGCACGGGAATCAGC 0.557000 18 144 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427339 38427339 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:38427339G>A ENST00000322350.5 + 14 2385 c.2039G>A c.(2038-2040)gGg>gAg p.G680E EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46E|EGFLAM-AS1_ENST00000508986.1_RNA NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 680 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGTGGCTCTGGGACCGGTGTC 0.502000 156 215 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55255323 55255323 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:55255323T>A ENST00000337526.6 - 2 833 c.590A>T c.(589-591)gAg>gTg p.E197V RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000357732.4_Missense_Mutation_p.E197V|RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000404909.1_5'UTR|RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 197 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TATCACAGGCTCAGATGCAGC 0.393000 9 27 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26484164 26484164 + Missense_Mutation SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:26484164C>G ENST00000311151.5 + 5 922 c.510C>G c.(508-510)ttC>ttG p.F170L DPYSL2_ENST00000523027.1_Missense_Mutation_p.F134L|DPYSL2_ENST00000521913.1_Missense_Mutation_p.F134L NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 170 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) ACATGGCTTTCAAAGATCGCT 0.438000 14 46 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111462468 111462468 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:111462468G>A ENST00000428084.1 - 27 3152 c.2880C>T c.(2878-2880)cgC>cgT p.R960R DOCK4_ENST00000437633.1_Silent_p.R960R Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 960 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACATCTCCGGGCGTATCAATA 0.368000 4 27 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51873088 51873088 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr20:51873088G>A ENST00000371497.5 + 2 3978 c.3091G>A c.(3091-3093)Gtg>Atg p.V1031M TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1028M|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1028M|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1031 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGTAACAGACGTGGATGAAGA 0.493000 22 88 0 0 1 0 0 RAB3D 9545 broad.mit.edu 37 19 11446167 11446167 + Missense_Mutation SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:11446167C>T ENST00000222120.3 - 4 688 c.428G>A c.(427-429)cGt>cAt p.R143H RAB3D_ENST00000589655.1_Missense_Mutation_p.R143H NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 143 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 AGGCACAACACGTTCGTCCTC 0.617000 10 47 0 0 1 0 0 UBXN4 23190 broad.mit.edu 37 2 136511787 136511787 + Silent SNP A A G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:136511787A>G ENST00000272638.9 + 4 584 c.273A>G c.(271-273)gaA>gaG p.E91E UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 91 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TTCCCTTGGAAGTAATAGCAG 0.393000 31 51 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28260020 28260020 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr15:28260020G>T ENST00000354638.3 - 9 1101 c.946C>A c.(946-948)Ctt>Att p.L316I OCA2_ENST00000353809.5_Missense_Mutation_p.L316I|OCA2_ENST00000382996.2_Missense_Mutation_p.L316I NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 316 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCCATCAAAAGAGGGACAGCC 0.562000 Oculocutaneous Albinism 7 44 0.00198382 0.00203715 1 1 0 PPP3CB 5532 broad.mit.edu 37 10 75234717 75234717 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:75234717T>A ENST00000360663.5 - 4 594 c.483A>T c.(481-483)gaA>gaT p.E161D PPP3CB_ENST00000545874.1_Missense_Mutation_p.E75D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E161D|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E161D|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E179D P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 161 Catalytic. breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) GGTGTCTGCATTCATGGTTGC 0.353000 15 23 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513156 70513156 + Silent SNP C C G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:70513156C>G ENST00000503640.1 - 1 262 c.207G>C c.(205-207)ctG>ctC p.L69L UGT2A1_ENST00000514019.1_Silent_p.L69L|UGT2A1_ENST00000512704.1_Silent_p.L69L|UGT2A1_ENST00000286604.4_Silent_p.L69L NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 69 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TTTCAAATGTCAGAGATGGGT 0.383000 10 64 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408471 2408471 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr19:2408471G>A ENST00000332578.3 + 7 858 c.858G>A c.(856-858)gcG>gcA p.A286A NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 286 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTACAACGCGGACACGGCCG 0.672000 34 115 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121642893 121642893 + Missense_Mutation SNP C C A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr6:121642893C>A ENST00000275159.6 - 2 202 c.203G>T c.(202-204)gGt>gTt p.G68V TBC1D32_ENST00000398212.2_Missense_Mutation_p.G68V TBC1 domain family, member 32 AATCATAGAACCCAAAGTGTT 0.358000 39 73 1.36161e-19 1.52087e-19 1 1 0 CD19 930 broad.mit.edu 37 16 28948832 28948832 + Missense_Mutation SNP T T G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:28948832T>G ENST00000538922.1 + 10 1422 c.1360T>G c.(1360-1362)Tcc>Gcc p.S454A CD19_ENST00000324662.3_Missense_Mutation_p.S454A|CD19_ENST00000567541.1_Missense_Mutation_p.S454A NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 454 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GGATGAAGACTCCTTCTCCAA 0.582000 45 40 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101880335 101880335 + Missense_Mutation SNP G G C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:101880335G>C ENST00000551346.1 + 6 692 c.533G>C c.(532-534)aGa>aCa p.R178T SPIC_ENST00000299272.5_Missense_Mutation_p.R178T Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 178 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 AATTACGGAAGAAGTGGGGAA 0.453000 18 78 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72822330 72822330 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr16:72822330G>A ENST00000268489.5 - 10 10517 c.9845C>T c.(9844-9846)gCg>gTg p.A3282V ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2368V NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3282 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGGTCTACCGCATACTCCAT 0.612000 4 200 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56680649 56680649 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:56680649T>A ENST00000431842.2 - 7 1852 c.928A>T c.(928-930)Agc>Tgc p.S310C FAM208A_ENST00000355628.5_Missense_Mutation_p.S706C|FAM208A_ENST00000493960.2_Missense_Mutation_p.S706C NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 706 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 ACAGTTTTGCTTCTCATATCT 0.368000 35 31 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73646504 73646504 + Missense_Mutation SNP A A C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:73646504A>C ENST00000055077.3 - 11 1057 c.997T>G c.(997-999)Tct>Gct p.S333A RFC2_ENST00000352131.3_Missense_Mutation_p.S299A NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 333 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 TGCAAAAGAGAGTTCACTCCT 0.448000 51 148 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21649158 21649158 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr18:21649158G>A ENST00000317571.3 + 4 619 c.383G>A c.(382-384)cGg>cAg p.R128Q TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Missense_Mutation_p.R67Q NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 128 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 ATGGTTGATCGGCTTCAGAGG 0.428000 12 68 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627222 140627222 + Silent SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:140627222G>A ENST00000231173.3 + 1 2076 c.2076G>A c.(2074-2076)gtG>gtA p.V692V NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 692 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTGGTGGTGGCATTGGCCT 0.662000 42 160 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11684932 11684932 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:11684932T>C ENST00000430365.2 - 1 466 c.61A>G c.(61-63)Atc>Gtc p.I21V VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron NM_001128219.1 NP_001121691.1 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) AGAATGCCGATATTGTTGTTC 0.473000 37 64 0 0 1 0 0 DECR1 1666 broad.mit.edu 37 8 91057169 91057169 + Silent SNP C C T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:91057169C>T ENST00000522161.1 + 10 1487 c.804C>T c.(802-804)ctC>ctT p.L268L DECR1_ENST00000220764.2_Silent_p.L277L Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial 277 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) TAGAAGAACTCGCAAATCTTG 0.423000 28 91 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104552178 104552178 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr14:104552178G>A ENST00000551177.1 + 1 163 c.71G>A c.(70-72)aGt>aAt p.S24N ASPG_ENST00000455920.2_Missense_Mutation_p.S24N|ASPG_ENST00000546892.2_Missense_Mutation_p.S24N NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 24 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GGCATGCGGAGTGAGCTCGGC 0.751000 6 18 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354385 17354385 + RNA SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:17354385T>C ENST00000511821.1 + 0 244 FTH1P10_ENST00000401830.3_RNA GGCAAAGTTCTTCAAAGCCAC 0.493000 18 101 0 0 1 0 0 KCNS3 3790 broad.mit.edu 37 2 18112727 18112727 + Missense_Mutation SNP T T G TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr2:18112727T>G ENST00000403915.1 + 3 903 c.452T>G c.(451-453)cTg>cGg p.L151R KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L151R Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 151 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAGTCGTCTCTGTTTGAGAAA 0.498000 17 81 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95482937 95482937 + Missense_Mutation SNP G G A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr9:95482937G>A ENST00000356884.6 - 4 774 c.707C>T c.(706-708)tCa>tTa p.S236L BICD2_ENST00000375512.3_Missense_Mutation_p.S236L NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 236 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGCCGCTCTGAGATCTCCTT 0.582000 31 37 0 0 1 0 0 TAS2R20 259295 broad.mit.edu 37 12 11149817 11149817 + Missense_Mutation SNP T T C TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr12:11149817T>C ENST00000538986.1 - 1 657 c.658A>G c.(658-660)Agc>Ggc p.S220G TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 220 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 ATCTTGGTGCTGGGATCTTGA 0.398000 50 180 0 0 1 0 0 PSTK 118672 broad.mit.edu 37 10 124742937 124742937 + Missense_Mutation SNP G G A rs79236806 TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr10:124742937G>A ENST00000405485.1 + 3 724 c.658G>A c.(658-660)Gaa>Aaa p.E220K PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000368887.3_Missense_Mutation_p.E220K Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 220 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) AAATGCTTGGGAACACAACAG 0.532000 9 29 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596560 97596560 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr3:97596560G>T ENST00000182096.4 + 1 742 c.678G>T c.(676-678)caG>caT p.Q226H NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TTACCTTCCAGTTGCCAGATC 0.473000 10 57 1.76689e-08 1.91748e-08 1 1 0 VCP 7415 broad.mit.edu 37 9 35059572 35059572 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr9:35059572T>A ENST00000358901.6 - 14 2817 c.1922A>T c.(1921-1923)cAg>cTg p.Q641L NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 641 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTAGATGAGCTGATCAAGACG 0.517000 34 35 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659554 50659568 + In_Frame_Del DEL ATCATCACCTCACGA ATCATCACCTCACGA - TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:50659554_50659568delATCATCACCTCACGA ENST00000371824.1 + 4 729_743 c.472_486delATCATCACCTCACGA c.(472-486)del p.IITSR158del ELAVL4_ENST00000371821.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000371819.1_In_Frame_Del_p.IITSR163del|ELAVL4_ENST00000448907.2_In_Frame_Del_p.IITSR161del|ELAVL4_ENST00000371823.4_In_Frame_Del_p.IITSR158del|ELAVL4_ENST00000357083.4_In_Frame_Del_p.IITSR175del|ELAVL4_ENST00000371827.1_In_Frame_Del_p.IITSR158del P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 158 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 ATACGGCCGTATCATCACCTCACGAATCCTGGTTG 0.451 10 117 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 10 54 --- --- --- --- CENPC 1060 broad.mit.edu 37 4 68384935 68384936 + Splice_Site INS - - T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr4:68384935_68384936insT ENST00000273853.6 - 6 866_867 c.617_splice c.e6+1 p.V206_splice NM_001812.2 NP_001803.2 centromere protein C AAAATGTTACCTTTTTTTGGTT 0.262 12 51 --- --- --- --- CTD-2012J19.3 0 broad.mit.edu 37 5 1597954 1597955 + RNA INS - - T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr5:1597954_1597955insT ENST00000605200.1 + 0 622 ttttctttttctttttttttga 0.465 2 4 --- --- --- --- NRF1 4899 broad.mit.edu 37 7 129350403 129350404 + Frame_Shift_Ins INS - - T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr7:129350403_129350404insT ENST00000393232.1 + 7 1072_1073 c.955_956insT c.(955-957)tatfs p.Y319fs NRF1_ENST00000353868.4_Intron|NRF1_ENST00000393231.3_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000223190.4_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000539636.1_Frame_Shift_Ins_p.Y158fs|NRF1_ENST00000393230.2_Frame_Shift_Ins_p.Y319fs|NRF1_ENST00000311967.2_Frame_Shift_Ins_p.Y319fs NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 319 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 CACTGTCTCACTTATCCAGGTG 0.490 24 39 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- SCARF2 91179 broad.mit.edu 37 22 20780088 20780088 + Frame_Shift_Del DEL C C - TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:20780088delC ENST00000405555.3 - 11 2245 c.2175delG c.(2173-2175)ggfs p.G725fs SCARF2_ENST00000266214.5_Frame_Shift_Del_p.G730fs NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 725 Pro-rich. cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCTCGGGCAGCCCCGGGGGGC 0.781 3 3 --- --- --- --- CARD10 29775 broad.mit.edu 37 22 37887204 37887204 + Frame_Shift_Del DEL T T - TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chr22:37887204delT ENST00000403299.1 - 21 3308 c.3092delA c.(3091-3093)ggfs p.E1031fs CARD10_ENST00000406271.3_Frame_Shift_Del_p.E745fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.E1031fs Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 1031 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GCCTCAGGCCTCACTGCTGCT 0.667 2 4 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688832 153688832 + Frame_Shift_Del DEL C C - TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23564147-0060-4a59-8610-f743f5fe4868 976c14e7-b73a-4752-ade1-b3f15e3e23ad g.chrX:153688832delC ENST00000369682.3 + 2 484 c.309delC c.(307-309)gafs p.D103fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 103 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCTCATAGACTATGCGGCCC 0.672 24 17 --- --- --- ---