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 FCRL4 83417 broad.mit.edu 37 1 157545345 157545345 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:157545345C>T ENST00000271532.1 - 12 1652 c.1517G>A c.(1516-1518)gGa>gAa p.G506E FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 506 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCTGATCTTTCCAGCTGAGTT 0.453000 16 51 0 0 1 0 0 BBC3 27113 broad.mit.edu 37 19 47725002 47725002 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:47725002G>C ENST00000449228.1 - 4 905 c.742C>G c.(742-744)Cct>Gct p.P248A BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000439096.2_3'UTR|BBC3_ENST00000300880.7_Missense_Mutation_p.P88A NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) AGGGTGTCAGGAGGTGGGAGG 0.706000 3 5 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62397071 62397071 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:62397071G>A ENST00000346178.4 - 16 1904 c.1889C>T c.(1888-1890)tCc>tTc p.S630F GANAB_ENST00000356638.3_Missense_Mutation_p.S608F|GANAB_ENST00000540933.1_Missense_Mutation_p.S511F|GANAB_ENST00000534779.1_Missense_Mutation_p.S516F NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 608 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 AAAGCGCTGGGAGCCAGCGAA 0.602000 7 36 0 0 1 0 0 PSKH1 5681 broad.mit.edu 37 16 67943151 67943151 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:67943151C>T ENST00000291041.5 + 2 669 c.499C>T c.(499-501)Cgg>Tgg p.R167W NM_006742.2 NP_006733.1 P11801 KPSH1_HUMAN protein serine kinase H1 167 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1) 12 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) GACACAGGAGCGGGTGTACAT 0.637000 4 33 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6389913 6389913 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr8:6389913C>T ENST00000325203.5 - 2 858 c.384G>A c.(382-384)ggG>ggA p.G128G ANGPT2_ENST00000523120.1_Silent_p.G128G|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Intron|ANGPT2_ENST00000415216.1_Silent_p.G128G O15123 ANGP2_HUMAN angiopoietin 2 128 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) ACAGGTTTGTCCCTATTTCTA 0.448000 16 50 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109690214 109690214 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:109690214G>C ENST00000277225.5 + 3 4310 c.4021G>C c.(4021-4023)Gat>Cat p.D1341H ZNF462_ENST00000441147.2_Missense_Mutation_p.D186H|ZNF462_ENST00000457913.1_Missense_Mutation_p.D1341H Q96JM2 ZN462_HUMAN zinc finger protein 462 1341 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACACTATGTTGATTACACCTA 0.542000 26 110 0 0 1 0 0 GLS 2744 broad.mit.edu 37 2 191769883 191769883 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:191769883G>C ENST00000320717.3 + 6 1227 c.969G>C c.(967-969)ttG>ttC p.L323F GLS_ENST00000338435.4_Missense_Mutation_p.L323F NM_014905.4 NP_055720.3 O94925 GLSK_HUMAN glutaminase 323 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity p.L323L(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AACTATTTTTGAATGAAGATG 0.294000 5 31 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538399 1538399 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:1538399G>A ENST00000263071.4 - 11 2195 c.2146C>T c.(2146-2148)Cag>Tag p.Q716* SCARF1_ENST00000348987.3_Nonsense_Mutation_p.Q630*|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 716 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGGCCTTTCTGGAAGCTACCA 0.637000 23 23 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88719778 88719778 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:88719778G>A ENST00000301012.3 - 9 1081 c.1052C>T c.(1051-1053)tCa>tTa p.S351L NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 351 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) AAGCTCAGCTGAGAGAGGGGC 0.612000 4 11 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767094 57767094 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr20:57767094G>A ENST00000371030.2 + 1 1020 c.1020G>A c.(1018-1020)gaG>gaA p.E340E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 340 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGAAGTGTGAGAGCACCGACT 0.736000 3 18 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44635930 44635930 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:44635930C>T ENST00000262894.6 + 5 1443 c.1163C>T c.(1162-1164)tCa>tTa p.S388L ZNF225_ENST00000590612.1_Missense_Mutation_p.S388L|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TCAGGTCTTTCAAGACATGTG 0.418000 21 93 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98270475 98270475 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:98270475C>T ENST00000331920.6 - 1 468 c.169G>A c.(169-171)Gac>Aac p.D57N PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000437951.1_Intron NM_000264.3 NP_000255.2 Q13635 PTC1_HUMAN patched 1 57 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AAGGCGGCGTCGCAGTAGCTG 0.682000 9 13 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23689318 23689318 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:23689318C>T ENST00000314011.4 - 4 693 c.557G>A c.(556-558)aGa>aAa p.R186K ZNF436_ENST00000374608.3_Missense_Mutation_p.R186K NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGTATGTGTTCTTTGATGCTG 0.448000 30 146 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94944794 94944794 + Missense_Mutation SNP C C A rs150388378 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:94944794C>A ENST00000222381.3 - 4 441 c.210G>T c.(208-210)aaG>aaT p.K70N PON1_ENST00000542556.1_Missense_Mutation_p.K70N NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 70 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TTCCAGGATACTTTAATCCCT 0.428000 18 51 3.99206e-14 4.45466e-14 1 1 0 PGK1 5230 broad.mit.edu 37 X 77378444 77378444 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:77378444G>A ENST00000373316.4 + 7 921 c.754G>A c.(754-756)Gag>Aag p.E252K PGK1_ENST00000537456.1_Missense_Mutation_p.E224K|PGK1_ENST00000442431.1_Missense_Mutation_p.E116K NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 252 E -> A (in PGK1D; with chronic hemolytic anemia; variant Antwerp). gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 CAACAACATGGAGGTAGGAAA 0.388000 7 61 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74148279 74148279 + Missense_Mutation SNP A A G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:74148279A>G ENST00000324896.4 + 16 1708 c.1319A>G c.(1318-1320)aAt>aGt p.N440S GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S|GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 440 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.N440S(7) NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 GAGCTTCTGAATTCAACACGT 0.358000 4 149 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40113086 40113086 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr20:40113086G>A ENST00000373233.3 - 15 2340 c.2163C>T c.(2161-2163)ttC>ttT p.F721F CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 721 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCTTGGTCAGGAAGGAAAAGT 0.468000 27 129 0 0 1 0 0 LCE2A 353139 broad.mit.edu 37 1 152671499 152671499 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:152671499C>G ENST00000368779.1 + 2 173 c.122C>G c.(121-123)tCt>tGt p.S41C NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 41 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCCAGTCTCTTCCTGCTGT 0.687000 40 82 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31236988 31236988 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:31236988G>A ENST00000251758.5 + 3 637 c.386G>A c.(385-387)cGa>cAa p.R129Q DDX11_ENST00000545668.1_Missense_Mutation_p.R129Q|DDX11_ENST00000350437.4_Missense_Mutation_p.R129Q|DDX11_ENST00000542838.1_Missense_Mutation_p.R129Q|DDX11_ENST00000407793.2_Missense_Mutation_p.R129Q|DDX11_ENST00000228264.6_Missense_Mutation_p.R103Q Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 129 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGGTGGACCGACTAAAGGTG 0.587000 Multiple Myeloma(12;0.14) 10 51 0 0 1 0 0 CARNS1 57571 broad.mit.edu 37 11 67192061 67192061 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:67192061C>G ENST00000445895.2 + 9 2956 c.2842C>G c.(2842-2844)Cac>Gac p.H948D CARNS1_ENST00000307823.3_Missense_Mutation_p.H825D|CARNS1_ENST00000531040.1_Missense_Mutation_p.H922D|CARNS1_ENST00000423745.2_Missense_Mutation_p.H825D A5YM72 CRNS1_HUMAN carnosine synthase 1 825 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 CTTCCTGTCTCACTTCAAATA 0.662000 4 22 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50570878 50570878 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:50570878C>T ENST00000547825.1 - 5 2612 c.1343G>A c.(1342-1344)cGg>cAg p.R448Q LIMA1_ENST00000394943.3_Missense_Mutation_p.R751Q|LIMA1_ENST00000552909.1_Missense_Mutation_p.R589Q|LIMA1_ENST00000552491.1_Missense_Mutation_p.R447Q|LIMA1_ENST00000552823.1_Missense_Mutation_p.R590Q|LIMA1_ENST00000341247.4_Missense_Mutation_p.R750Q|LIMA1_ENST00000552783.1_Missense_Mutation_p.R591Q NM_001243775.1 NP_001230704.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 750 LIM zinc-binding. actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding p.R750L(1) NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 ATCATAATACCGATTTCTCTT 0.428000 4 260 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62397082 62397082 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:62397082G>C ENST00000346178.4 - 16 1893 c.1878C>G c.(1876-1878)ttC>ttG p.F626L GANAB_ENST00000356638.3_Missense_Mutation_p.F604L|GANAB_ENST00000540933.1_Missense_Mutation_p.F507L|GANAB_ENST00000534779.1_Missense_Mutation_p.F512L NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 604 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 AGCCAGCGAAGAAGGCCCTGG 0.602000 10 31 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123224564 123224564 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:123224564G>A ENST00000371160.1 + 31 3707 c.3417G>A c.(3415-3417)atG>atA p.M1139I STAG2_ENST00000354548.5_Missense_Mutation_p.M1070I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.M1139I|STAG2_ENST00000371157.3_Missense_Mutation_p.M1139I|STAG2_ENST00000371145.3_Missense_Mutation_p.M1139I|STAG2_ENST00000371144.3_Missense_Mutation_p.M1139I NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 1139 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 ATAGCTTCATGAGTGTTTATC 0.378000 13 99 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12345547 12345547 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:12345547G>A ENST00000256186.2 + 5 1856 c.1565G>A c.(1564-1566)aGa>aAa p.R522K NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 522 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CTTAGAAGAAGAAAGAAGCTA 0.343000 14 36 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33579079 33579079 + Nonsense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:33579079G>C ENST00000228567.3 - 2 799 c.503C>G c.(502-504)tCa>tGa p.S168* SYT10_ENST00000535526.1_De_novo_Start_OutOfFrame|SYT10_ENST00000567656.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 168 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.S168*(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTACCGGGTTGATGACGTAGG 0.403000 27 135 0 0 1 0 0 LOC441666 441666 broad.mit.edu 37 10 42832541 42832541 + RNA SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr10:42832541C>T ENST00000609841.1 - 0 1362 NR_024380.1 AAAGGCTTTACCACATTCTTC 0.368000 3 8 0 0 1 0 0 EFNA2 1943 broad.mit.edu 37 19 1295653 1295653 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:1295653G>A ENST00000215368.2 + 2 265 c.250G>A c.(250-252)Gag>Aag p.E84K MUM1_ENST00000344663.3_Intron NM_001405.3 NP_001396.2 O43921 EFNA2_HUMAN ephrin-A2 84 cell-cell signaling anchored to membrane|plasma membrane ephrin receptor binding lung(2) 2 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) GCCGCCGGCCGAGCGCATGGA 0.692000 5 16 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54445440 54445440 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:54445440C>T ENST00000391767.1 + 6 933 c.721C>T c.(721-723)Cgg>Tgg p.R241W CACNG7_ENST00000222212.2_Missense_Mutation_p.R241W P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 241 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GCGCCGCGGCCGGAGCCCCTC 0.667000 10 58 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545595 196545595 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:196545595C>G ENST00000409086.3 + 2 1104 c.829C>G c.(829-831)Cat>Gat p.H277D SLC39A10_ENST00000359634.5_Missense_Mutation_p.H277D|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 277 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TAACCCAGGTCATTCTCATGT 0.438000 7 59 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050202 84050202 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:84050202C>T ENST00000299709.3 - 8 1083 c.1084G>A c.(1084-1086)Gcg>Acg p.A362T NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 362 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ATAAACAGCGCCATGGCGAGC 0.637000 10 29 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241702642 241702642 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:241702642G>A ENST00000498729.2 - 21 2136 c.1890C>T c.(1888-1890)ttC>ttT p.F630F KIF1A_ENST00000320389.7_Silent_p.F621F NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 621 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CACGCTGGGCGAAGGCCCAGT 0.667000 3 13 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32620298 32620298 + Silent SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:32620298C>G ENST00000373625.3 + 2 207 c.114C>G c.(112-114)ctC>ctG p.L38L KPNA6_ENST00000545542.1_Silent_p.L43L|KPNA6_ENST00000537234.1_Silent_p.L35L|KPNA6_ENST00000469790.1_3'UTR NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 38 IBB. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCATTCAGCTCCGGAAGCAGA 0.468000 7 19 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49856837 49856837 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:49856837G>A ENST00000376088.3 + 15 3053 c.2412G>A c.(2410-2412)caG>caA p.Q804Q CLCN5_ENST00000376091.3_Silent_p.Q804Q|CLCN5_ENST00000376108.3_Silent_p.Q734Q|CLCN5_ENST00000307367.2_Silent_p.Q734Q NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 734 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) ATATAGCACAGATGGCGAACC 0.348000 11 57 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680592 159680592 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:159680592C>T ENST00000393977.3 - 7 1386 c.1101G>A c.(1099-1101)ggG>ggA p.G367G CCNJL_ENST00000257536.7_Silent_p.G319G|CCNJL_ENST00000377503.2_5'UTR NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 367 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGCAGGCTCCCTGAACGGT 0.657000 5 28 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24583000 24583000 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:24583000G>C ENST00000319715.4 + 18 5045 c.4613G>C c.(4612-4614)aGa>aCa p.R1538T RBBP6_ENST00000381039.3_Missense_Mutation_p.R698T|RBBP6_ENST00000348022.2_Missense_Mutation_p.R1504T NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1538 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AGTCCCTCAAGAGACAGAAAA 0.368000 17 55 0 0 1 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64129188 64129188 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:64129188C>T ENST00000528057.1 + 7 814 c.726C>T c.(724-726)ggC>ggT p.G242G RPS6KA4_ENST00000334205.4_Silent_p.G242G|RPS6KA4_ENST00000294261.4_Silent_p.G242G NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 242 Protein kinase 1. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 CCCTGGAGGGCGAGAGGAACA 0.711000 7 20 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137488425 137488425 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:137488425C>T ENST00000254900.5 - 21 2973 c.2602G>A c.(2602-2604)Gat>Aat p.D868N NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 868 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGTTCAGAATCCAGCCAAACC 0.453000 27 68 0 0 1 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241513629 241513629 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:241513629C>T ENST00000270357.4 + 5 938 c.345C>T c.(343-345)ttC>ttT p.F115F NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) GCGATGAGTTCCTGGTCATCG 0.597000 6 35 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52603963 52603963 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:52603963G>C ENST00000521776.2 + 2 1756 c.1023G>C c.(1021-1023)gaG>gaC p.E341D NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 341 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TAGCCTCTGAGAGTGAGGAAG 0.507000 21 54 0 0 1 0 0 MAP2K5 5607 broad.mit.edu 37 15 67938757 67938757 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:67938757G>T ENST00000178640.5 + 11 1313 c.686G>T c.(685-687)gGa>gTa p.G229V MAP2K5_ENST00000395476.2_Missense_Mutation_p.G229V|MAP2K5_ENST00000354498.5_Missense_Mutation_p.G193V|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000340972.4_Missense_Mutation_p.G39V NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 229 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 GGATTTTATGGAGCATTTTTT 0.284000 8 38 7.48243e-07 8.03897e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179600731 179600731 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:179600731G>A ENST00000589042.1 - 50 14666 c.14442C>T c.(14440-14442)ttC>ttT p.F4814F TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F4497F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F3570F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4497 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTGCAGATGAACTTGGCTG 0.458000 12 42 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48818437 48818437 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:48818437C>T ENST00000316623.5 - 9 1333 c.878G>A c.(877-879)aGc>aAc p.S293N NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 293 EGF-like 5; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGGAATGGTGCTGCATTCATC 0.393000 11 65 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52193765 52193765 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr20:52193765G>C ENST00000371471.2 - 4 1963 c.1538C>G c.(1537-1539)tCt>tGt p.S513C ZNF217_ENST00000302342.3_Missense_Mutation_p.S513C O75362 ZN217_HUMAN zinc finger protein 217 513 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ATACCTCAGAGATGTCTTCTG 0.393000 48 130 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 114009698 114009698 + Missense_Mutation SNP A A T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:114009698A>T ENST00000375430.4 - 3 326 c.280T>A c.(280-282)Tac>Aac p.Y94N GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000326039.3_Missense_Mutation_p.Y16N|GRTP1_ENST00000375431.4_Missense_Mutation_p.Y94N Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 94 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) TGGTGGTAGTAGCCGGGATTC 0.667000 9 26 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7548851 7548851 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:7548851G>A ENST00000313599.3 - 8 1947 c.1890C>T c.(1888-1890)atC>atT p.I630I CD163L1_ENST00000416109.2_Silent_p.I640I|CD163L1_ENST00000396630.1_Silent_p.I630I Q9NR16 C163B_HUMAN CD163 molecule-like 1 630 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity 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 CCATGCCAATGATAGAAGATG 0.502000 8 68 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76440786 76440786 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:76440786C>T ENST00000389840.5 - 71 11510 c.11386G>A c.(11386-11388)Gag>Aag p.E3796K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3805K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCTCCTTCTCGGGGGCTTCC 0.567000 11 21 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124522515 124522515 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:124522515G>T ENST00000408936.3 + 6 1149 c.967G>T c.(967-969)Ggc>Tgc p.G323C DAB2IP_ENST00000309989.1_Missense_Mutation_p.G199C|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G295C Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 323 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGGCGGCAAGGGCCCTGGACC 0.617000 10 10 0.000442599 0.000458469 1 1 0 KIF21A 55605 broad.mit.edu 37 12 39734071 39734071 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:39734071G>A ENST00000395670.3 - 16 2625 c.2206C>T c.(2206-2208)Caa>Taa p.Q736* KIF21A_ENST00000361418.5_Nonsense_Mutation_p.Q736*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.Q723*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.Q723*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.Q723* Q7Z4S6 KI21A_HUMAN kinesin family member 21A 736 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TGAGCTGCTTGAAGTCTCTGC 0.358000 4 67 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975977 20975977 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:20975977G>A ENST00000261383.3 - 53 9228 c.9229C>T c.(9229-9231)Cgc>Tgc p.R3077C DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3077 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R3077C(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAGGCCCAGCGTCTGGAATTG 0.483000 21 44 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9630449 9630449 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:9630449C>G ENST00000310823.3 - 19 2514 c.2332G>C c.(2332-2334)Gag>Cag p.E778Q IAH1_ENST00000545602.1_Intron NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 778 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) GGGTCCTTCTCAAACCCATCC 0.537000 20 31 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241797911 241797911 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:241797911G>A ENST00000366553.1 - 1 1321 c.1158C>T c.(1156-1158)ccC>ccT p.P386P OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 386 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AGAAACCCTGGGGAATTTCTC 0.423000 11 66 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22890989 22890989 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr22:22890989G>A ENST00000543184.1 - 5 1892 c.1030C>T c.(1030-1032)Cag>Tag p.Q344* PRAME_ENST00000402697.1_Nonsense_Mutation_p.Q344*|PRAME_ENST00000424204.2_Nonsense_Mutation_p.Q328*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.Q344*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.Q344*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.Q344*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.Q328* NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 344 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTGGGACTCTGGGACAGATGC 0.537000 37 64 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182551220 182551220 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:182551220C>T ENST00000367559.3 - 4 1993 c.1740G>A c.(1738-1740)ctG>ctA p.L580L RNASEL_ENST00000539397.1_Silent_p.L580L|RNASEL_ENST00000444138.1_Silent_p.L580L NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 580 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GATGACCCAGCAGGTCACTCA 0.498000 31 93 0 0 1 0 0 TIPIN 54962 broad.mit.edu 37 15 66633668 66633668 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:66633668C>G ENST00000261881.4 - 7 587 c.502G>C c.(502-504)Gat>Cat p.D168H TIPIN_ENST00000367709.4_Missense_Mutation_p.D67H NM_017858.2 NP_060328 Q9BVW5 TIPIN_HUMAN TIMELESS interacting protein 168 cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 GAAGTGACATCATGTTCATTA 0.358000 13 26 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116930187 116930187 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:116930187C>T ENST00000356083.3 + 3 743 c.352C>T c.(352-354)Cgc>Tgc p.R118C NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 118 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent p.R118S(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTTCGCTGTCCGCAGCCAGAA 0.662000 23 24 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20104414 20104414 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr22:20104414C>G ENST00000252136.7 - 1 404 c.16G>C c.(16-18)Gac>Cac p.D6H RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Missense_Mutation_p.D6H|TRMT2A_ENST00000439169.2_Missense_Mutation_p.D6H|TRMT2A_ENST00000403707.3_Missense_Mutation_p.D6H NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 6 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 ACCTCGTTGTCGAGGTTCTCA 0.662000 7 9 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80548609 80548609 + Missense_Mutation SNP A A C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:80548609A>C ENST00000424301.2 + 4 486 c.248A>C c.(247-249)aAc>aCc p.N83T CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.N83T|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.N83T NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 83 Phosphagen kinase N-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) GTGACACCCAACGGCTACACG 0.587000 12 23 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128811355 128811355 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr4:128811355G>T ENST00000270861.5 + 7 2068 c.1794G>T c.(1792-1794)agG>agT p.R598S PLK4_ENST00000514379.1_Missense_Mutation_p.R557S|PLK4_ENST00000515069.1_Missense_Mutation_p.R520S|PLK4_ENST00000507249.1_Missense_Mutation_p.R564S|PLK4_ENST00000513090.1_Missense_Mutation_p.R566S NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 598 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TTGCTCACAGGTTAAAACCAA 0.383000 28 50 4.59853e-10 5.10948e-10 1 1 0 KIF18A 81930 broad.mit.edu 37 11 28112259 28112259 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:28112259C>T ENST00000263181.6 - 5 894 c.604G>A c.(604-606)Gaa>Aaa p.E202K NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 202 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TGTAAAATTTCTTCTGAGGAT 0.303000 20 21 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501317 90501317 + Missense_Mutation SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:90501317C>A ENST00000325643.5 + 4 1981 c.1915C>A c.(1915-1917)Cag>Aag p.Q639K NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCACCAGGAGCAGTCCTGTGG 0.632000 19 25 2.4624e-09 2.72435e-09 1 1 0 THAP4 51078 broad.mit.edu 37 2 242572549 242572549 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:242572549G>A ENST00000407315.1 - 2 1454 c.1023C>T c.(1021-1023)ctC>ctT p.L341L NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 341 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GTGAGTCGATGAGCTTGCAGG 0.627000 7 26 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112915528 112915528 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:112915528C>G ENST00000351677.2 + 8 1125 c.927C>G c.(925-927)atC>atG p.I309M PTPN11_ENST00000392597.1_Missense_Mutation_p.I309M NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 309 Tyrosine-protein phosphatase. I -> V (in NS1). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 ATGCAAATATCATCATGGTAA 0.378000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 20 54 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 5 343 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94353178 94353178 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:94353178G>A ENST00000299001.6 + 19 2521 c.2310G>A c.(2308-2310)ctG>ctA p.L770L RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA|PIWIL4_ENST00000537419.1_Silent_p.L121L NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 770 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACTTTTATCTGATCAGCCAGG 0.428000 18 24 0 0 1 0 0 TAOK3 51347 broad.mit.edu 37 12 118627629 118627629 + Missense_Mutation SNP T T C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:118627629T>C ENST00000392533.3 - 14 1802 c.1312A>G c.(1312-1314)Atc>Gtc p.I438V TAOK3_ENST00000419821.2_Missense_Mutation_p.I438V|TAOK3_ENST00000537952.1_5'UTR NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 438 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGATTTGATCGTGGCAAAG 0.627000 18 81 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49176871 49176871 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:49176871C>T ENST00000307885.4 - 1 1041 c.347G>A c.(346-348)cGa>cAa p.R116Q ADCY6_ENST00000550422.1_Missense_Mutation_p.R116Q|ADCY6_ENST00000357869.3_Missense_Mutation_p.R116Q NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 116 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CCAGCAGGATCGCCCACTCCT 0.672000 15 30 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134033704 134033704 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:134033704G>A ENST00000398844.2 + 15 2511 c.2223G>A c.(2221-2223)cgG>cgA p.R741R NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 741 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCTTACTCGGAAGATTGGCT 0.393000 38 76 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141015991 141015991 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:141015991G>A ENST00000277549.5 + 47 6711 c.4142G>A c.(4141-4143)cGg>cAg p.R1381Q CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2187Q|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2188Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2185Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2186Q Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2187 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGCGGTGGGCGGAGGCAGCTC 0.632000 3 4 0 0 1 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93390097 93390097 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr10:93390097C>G ENST00000238994.5 - 2 625 c.541G>C c.(541-543)Gag>Cag p.E181Q NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 181 CBM21.|Interaction with EPM2A. protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) ACTTTCTTCTCAAAACTCACA 0.413000 13 90 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 52 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73221213 73221213 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:73221213C>T ENST00000447371.2 + 7 533 c.109C>T c.(109-111)Ctg>Ttg p.L37L NUP85_ENST00000541827.1_Silent_p.L159L|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000245544.4_Silent_p.L205L|NUP85_ENST00000579324.1_Silent_p.L93L|NUP85_ENST00000449421.2_3'UTR Q9BW27 NUP85_HUMAN nucleoporin 85kDa 205 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CATCTTGGTGCTGCAGGGCCG 0.652000 23 31 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113314631 113314631 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:113314631G>A ENST00000389385.4 + 13 1628 c.1131G>A c.(1129-1131)gaG>gaA p.E377E RPH3A_ENST00000551052.1_Silent_p.E373E|RPH3A_ENST00000415485.3_Silent_p.E377E|RPH3A_ENST00000447659.2_Silent_p.E328E|RPH3A_ENST00000543106.2_Silent_p.E377E|RPH3A_ENST00000420983.2_Silent_p.E377E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Silent_p.E328E NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 377 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CCCCAGAGGAGGAGGAAGAGG 0.597000 7 33 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21557868 21557868 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:21557868C>G ENST00000382592.4 - 5 2382 c.1977G>C c.(1975-1977)aaG>aaC p.K659N LATS2_ENST00000542899.1_Missense_Mutation_p.K659N NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 659 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TCTTGGCCCTCTTTAACCTGT 0.493000 17 53 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074760 140074760 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:140074760G>A ENST00000323927.2 - 10 1767 c.1763C>T c.(1762-1764)cCg>cTg p.P588L NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 588 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GACCCCGAACGGTGGCTGCTC 0.642000 7 140 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49177002 49177002 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:49177002C>T ENST00000307885.4 - 1 910 c.216G>A c.(214-216)cgG>cgA p.R72R ADCY6_ENST00000550422.1_Silent_p.R72R|ADCY6_ENST00000357869.3_Silent_p.R72R NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 72 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GGCCGCCCCTCCGGATGAAGG 0.721000 12 17 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8974089 8974089 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:8974089C>G ENST00000397910.4 - 76 42785 c.42582G>C c.(42580-42582)caG>caC p.Q14194H MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.Q835H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14225 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGATAAATTCTGGGGTGCAT 0.488000 4 14 0 0 1 0 0 OR2T5 401993 broad.mit.edu 37 1 248651988 248651988 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:248651988G>A ENST00000366473.2 + 1 104 c.99G>A c.(97-99)gtG>gtA p.V33V NM_001004697.1 NP_001004697.1 Q6IEZ7 OR2T5_HUMAN olfactory receptor, family 2, subfamily T, member 5 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2) 9 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACTTAGTGTGGTCATCTTTG 0.488000 11 172 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375060 8375060 + Silent SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:8375060G>C ENST00000538603.1 - 7 1311 c.753C>G c.(751-753)ctC>ctG p.L251L FAM90A1_ENST00000307435.6_Silent_p.L251L NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 251 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TGACGGCCTGGAGCAGGCCGT 0.662000 17 24 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16504433 16504433 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr4:16504433G>A ENST00000304523.5 - 8 1278 c.955C>T c.(955-957)Cta>Tta p.L319L RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Silent_p.L317L|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000503178.2_3'UTR NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 319 LIM-binding domain (LID) (By similarity). LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 CTAGTGATTAGCCTTTCGTCC 0.517000 39 72 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73477856 73477856 + Missense_Mutation SNP A A T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:73477856A>T ENST00000377110.3 - 3 673 c.430T>A c.(430-432)Ttc>Atc p.F144I TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377105.1_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.F144I|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.F146I|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.F146I|TRPM3_ENST00000437699.3_5'UTR Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CCTCCTTGGAACTCAATGGTC 0.478000 48 45 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756574 94756574 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:94756574C>T ENST00000554723.1 - 2 895 c.477G>A c.(475-477)ccG>ccA p.P159P SERPINA10_ENST00000261994.4_Silent_p.P119P|SERPINA10_ENST00000554173.1_Silent_p.P119P|SERPINA10_ENST00000393096.1_Silent_p.P119P Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 119 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGGTTTCAGTCGGCCCTGTGG 0.582000 21 58 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220928421 220928421 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:220928421G>A ENST00000366913.3 + 2 603 c.405G>A c.(403-405)ttG>ttA p.L135L MARC2_ENST00000359316.2_Silent_p.L135L NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 135 mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding AGCTGGTTTTGCCTAGCAAGC 0.537000 14 88 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67673620 67673620 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr18:67673620C>T ENST00000255674.6 - 47 6808 c.6522G>A c.(6520-6522)caG>caA p.Q2174Q RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 2174 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AACTGACCTTCTGATAATTGT 0.408000 19 24 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538603 1538603 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:1538603G>C ENST00000263071.4 - 11 1991 c.1942C>G c.(1942-1944)Ccg>Gcg p.P648A SCARF1_ENST00000348987.3_Missense_Mutation_p.P562A|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 648 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCAGCCGCCGGAAAGGACTCG 0.692000 10 12 0 0 1 0 0 SBDS 51119 broad.mit.edu 37 7 66453442 66453442 + Silent SNP T T C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:66453442T>C ENST00000246868.2 - 5 852 c.669A>G c.(667-669)ctA>ctG p.L223L NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 223 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 CCTTTTTTATTAGCTCATCAA 0.383000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 19 55 0 0 1 0 0 FAM134B 54463 broad.mit.edu 37 5 16475169 16475169 + Nonsense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:16475169G>C ENST00000306320.9 - 9 1261 c.1175C>G c.(1174-1176)tCa>tGa p.S392* FAM134B_ENST00000399793.2_Nonsense_Mutation_p.S251* NM_001034850.2 NP_001030022.1 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 392 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 ACCAGCTGCTGATTGCGTCTC 0.488000 26 62 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224475612 224475612 + Silent SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:224475612C>G ENST00000281701.6 - 14 1918 c.1659G>C c.(1657-1659)ctG>ctC p.L553L NVL_ENST00000482491.1_Silent_p.L277L|NVL_ENST00000340871.4_Silent_p.L364L|NVL_ENST00000391875.2_Silent_p.L447L|NVL_ENST00000361463.3_Silent_p.L447L|NVL_ENST00000469075.1_Silent_p.L462L NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 553 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TGAAATCATTCAGTTCAATGC 0.483000 16 45 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745917 140745917 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:140745917G>T ENST00000518069.1 + 1 2020 c.2020G>T c.(2020-2022)Gac>Tac p.D674Y PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCTGGCTGACCTAGGCAG 0.612000 88 191 5.92634e-42 6.72859e-42 1 1 0 TEFM 79736 broad.mit.edu 37 17 29226579 29226579 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:29226579G>A ENST00000581216.1 - 4 1312 c.691C>T c.(691-693)Ctg>Ttg p.L231L TEFM_ENST00000580840.1_3'UTR NM_024683.3 NP_078959.3 Q96QE5 TEFM_HUMAN transcription elongation factor, mitochondrial 231 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding GTTTTTTCCAGAACATAGAAA 0.299000 7 110 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638458 56638458 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:56638458C>G ENST00000267116.7 - 24 2821 c.2700G>C c.(2698-2700)gaG>gaC p.E900D ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 900 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 TCTGCCCGTTCTCAGCCGCCG 0.642000 6 27 0 0 1 0 0 SNRPD2 6633 broad.mit.edu 37 19 46190868 46190868 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:46190868G>A ENST00000342669.3 - 3 744 c.300C>T c.(298-300)ttC>ttT p.F100F SNRPD2_ENST00000585392.1_Silent_p.F36F|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000391932.3_Silent_p.F90F|SNRPD2_ENST00000587367.1_Silent_p.F90F|SNRPD2_ENST00000588599.1_Silent_p.F90F|SNRPD2_ENST00000588301.1_Silent_p.F100F NM_004597.5 NP_004588.1 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 100 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) CCCCGCGCAGGAACATCTTGG 0.562000 9 39 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18219385 18219385 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:18219385C>T ENST00000406438.3 + 1 762 c.282C>T c.(280-282)atC>atT p.I94I NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 94 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 CCCTGCGTATCATGTCTGTGG 0.527000 27 158 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809003 48809003 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:48809003G>A ENST00000309835.3 + 1 1241 c.1231G>A c.(1231-1233)Gag>Aag p.E411K STON1_ENST00000406226.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E411K|STON1_ENST00000404752.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E411K stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGAACTACGAGGAGCAAGA 0.403000 4 78 0 0 1 0 0 CYTH3 9265 broad.mit.edu 37 7 6227307 6227307 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:6227307G>A ENST00000350796.3 - 3 299 c.163C>T c.(163-165)Cta>Tta p.L55L NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 55 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 ACGGAAGTTAGATTGTCGATC 0.428000 19 72 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200017650 200017650 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:200017650G>C ENST00000367362.3 + 5 1060 c.814G>C c.(814-816)Gag>Cag p.E272Q NR5A2_ENST00000236914.3_Missense_Mutation_p.E226Q|NR5A2_ENST00000544748.1_Missense_Mutation_p.E200Q NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 272 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CATCAAGTCTGAGTACCCAGA 0.512000 24 38 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48891044 48891044 + Missense_Mutation SNP T T A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:48891044T>A ENST00000315869.7 - 8 1331 c.1072A>T c.(1072-1074)Agg>Tgg p.R358W TFE3_ENST00000487451.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 358 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TTGAATCGCCTGCGACGCTCA 0.532000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 12 38 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54578726 54578726 + Splice_Site SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:54578726G>A ENST00000336470.4 + 13 1322 c.1183G>A c.(1183-1185)Ggg>Agg p.G395R GNL3L_ENST00000360845.2_Splice_Site_p.G395R NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 395 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 CCAATGCAGCGGGAAGATCAG 0.507000 6 65 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604051 140604051 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:140604051G>T ENST00000239449.4 + 1 974 c.974G>T c.(973-975)gGg>gTg p.G325V PCDHB14_ENST00000515856.2_Missense_Mutation_p.G172V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 325 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGATGGTGGGGGTCTTTCA 0.383000 12 65 2.80697e-09 3.09243e-09 1 1 0 ZNF839 55778 broad.mit.edu 37 14 102807866 102807866 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:102807866C>T ENST00000262236.5 + 8 2147 c.1792C>T c.(1792-1794)Cct>Tct p.P598S ZNF839_ENST00000559185.1_Missense_Mutation_p.P596S|ZNF839_ENST00000558850.1_Missense_Mutation_p.P596S|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000442396.2_Missense_Mutation_p.P712S NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 596 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GTCAGGAGAGCCTAGGAGGCT 0.587000 5 17 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6697705 6697705 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:6697705G>A ENST00000245907.6 - 20 2633 c.2541C>T c.(2539-2541)atC>atT p.I847I NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 847 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) GAACGGCTCGGATTTCCACCT 0.572000 10 32 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053992 11053992 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:11053992G>A ENST00000295082.1 + 1 1930 c.1440G>A c.(1438-1440)ctG>ctA p.L480L NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 480 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) TCCCCCTCCTGACCGAGGAGA 0.647000 8 22 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47162043 47162043 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:47162043C>G ENST00000409792.3 - 3 4125 c.4083G>C c.(4081-4083)caG>caC p.Q1361H NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1361 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCTTGTCTTTCTGAAGGGATA 0.388000 """N, F, S, Mis""" clear cell renal carcinoma 18 31 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50267154 50267154 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:50267154G>C ENST00000298310.5 - 23 2805 c.2356C>G c.(2356-2358)Cac>Gac p.H786D NEMF_ENST00000546046.1_Missense_Mutation_p.H765D|NEMF_ENST00000545773.1_Missense_Mutation_p.H744D|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 786 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 GGTTGAAGGTGAGACAAGTCA 0.323000 9 24 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171774337 171774337 + Splice_Site SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:171774337C>A ENST00000311601.5 - 11 1183 c.e11-1 SH3PXD2B_ENST00000519643.1_Splice_Site NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTGGTGATCCTATGGAGAAA 0.517000 19 27 5.35267e-07 5.77466e-07 1 1 0 ANKS4B 257629 broad.mit.edu 37 16 21262007 21262007 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:21262007C>G ENST00000311620.5 + 2 1193 c.1120C>G c.(1120-1122)Ctg>Gtg p.L374V NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 374 SAM. NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) TCTAGAAGCTCTGCTGCTCTG 0.502000 29 38 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776768 77776768 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr8:77776768C>G ENST00000521891.2 + 11 11266 c.10818C>G c.(10816-10818)ttC>ttG p.F3606L ZFHX4_ENST00000455469.2_Missense_Mutation_p.F3561L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F3557L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F3580L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3557 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) ATGGTAATTTCAATAGCATCC 0.363000 HNSCC(33;0.089) 10 12 0 0 1 0 0 CCDC96 257236 broad.mit.edu 37 4 7044575 7044575 + Missense_Mutation SNP T T C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr4:7044575T>C ENST00000310085.4 - 1 153 c.91A>G c.(91-93)Agc>Ggc p.S31G RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 31 endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 GGGCCAGAGCTGGCCTTGATC 0.706000 3 5 0 0 1 0 0 ZNF410 57862 broad.mit.edu 37 14 74376124 74376124 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:74376124G>A ENST00000555044.1 + 8 1188 c.994G>A c.(994-996)Gtt>Att p.V332I RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.V259I|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.V332I|ZNF410_ENST00000442160.3_Missense_Mutation_p.V349I|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.V279I NM_001242928.1|NM_021188.2 NP_001229857.1|NP_067011.1 Q86VK4 ZN410_HUMAN zinc finger protein 410 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.00369) ACATCTGGTGGTTCACTCAGG 0.408000 90 151 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12302617 12302617 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:12302617G>C ENST00000358136.3 + 3 275 c.145G>C c.(145-147)Gaa>Caa p.E49Q VPS13D_ENST00000356315.4_Missense_Mutation_p.E49Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 49 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGCCTTGAAAGAATTGGAATT 0.353000 4 37 0 0 1 0 0 ARSB 411 broad.mit.edu 37 5 78260297 78260297 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:78260297G>A ENST00000264914.4 - 3 1168 c.632C>T c.(631-633)tCa>tTa p.S211L ARSB_ENST00000565165.1_Missense_Mutation_p.S211L|ARSB_ENST00000396151.3_Missense_Mutation_p.S211L NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 211 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) TATGTTTGTTGAATACATATT 0.373000 16 36 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18882043 18882043 + Silent SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:18882043G>T ENST00000388995.6 - 5 1159 c.936C>A c.(934-936)ctC>ctA p.L312L SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L312L|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Silent_p.L312L|SLC5A10_ENST00000417251.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 312 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GGATGCCCTTGAGGCTCACAC 0.607000 39 39 4.32679e-17 4.84899e-17 1 1 0 VDAC1 7416 broad.mit.edu 37 5 133326558 133326558 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:133326558G>A ENST00000265333.3 - 5 555 c.311C>T c.(310-312)tCa>tTa p.S104L VDAC1_ENST00000395044.3_Missense_Mutation_p.S104L|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.S104L NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 104 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) AGTGTTAGGTGAGAAGGATGA 0.463000 12 73 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T rs67389650 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:7577127C>T ENST00000420246.2 - 8 943 c.811G>A c.(811-813)Gag>Aag p.E271K TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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) ACACGCACCTCAAAGCTGTTC 0.537000 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) 8 7 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169565266 169565266 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:169565266G>A ENST00000263686.6 - 12 2035 c.1998C>T c.(1996-1998)acC>acT p.T666T SELP_ENST00000367792.2_Silent_p.T482T|SELP_ENST00000367788.2_Silent_p.T604T|SELP_ENST00000367786.2_Silent_p.T604T|SELP_ENST00000367791.2_Silent_p.T480T|SELP_ENST00000458599.2_Silent_p.T482T|SELP_ENST00000367793.2_Silent_p.T604T|SELP_ENST00000367794.2_Silent_p.T604T NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 666 Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGTAACAAGTGGTATTAAAAC 0.517000 88 214 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48033970 48033970 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:48033970G>A ENST00000453192.2 - 9 1010 c.767C>T c.(766-768)tCa>tTa p.S256L SUN3_ENST00000297325.4_Missense_Mutation_p.S268L|SUN3_ENST00000395572.2_Missense_Mutation_p.S268L|SUN3_ENST00000412142.1_Missense_Mutation_p.S168L|SUN3_ENST00000473723.1_5'UTR NM_001284350.1 NP_001271279.1 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 268 SUN. integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CACCTTCTCTGAGATGTGCTC 0.453000 38 74 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67400955 67400955 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:67400955C>T ENST00000329956.6 + 8 809 c.790C>T c.(790-792)Cga>Tga p.R264* LRRC36_ENST00000563189.1_Nonsense_Mutation_p.R143*|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Nonsense_Mutation_p.R143*|LRRC36_ENST00000290940.7_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 264 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GTCCACAGTCCGATCCCCAGA 0.428000 21 74 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89445006 89445006 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:89445006G>A ENST00000336596.2 + 6 1551 c.1326G>A c.(1324-1326)acG>acA p.T442T EPHA3_ENST00000452448.2_Silent_p.T442T|EPHA3_ENST00000494014.1_Silent_p.T442T NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 442 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTGTCCTGACGATTAAGAAAG 0.458000 TSP Lung(6;0.00050) 33 44 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52469017 52469017 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:52469017C>T ENST00000243644.4 - 5 916 c.689G>A c.(688-690)gGa>gAa p.G230E HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 230 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) GGGTTTCTCTCCTGTATGCAT 0.418000 23 119 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33834786 33834786 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr20:33834786G>A ENST00000246186.6 + 2 475 c.390G>A c.(388-390)acG>acA p.T130T MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 130 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) ATCAGACAACGATCGAGTAAG 0.522000 16 56 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3953084 3953084 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:3953084G>A ENST00000381638.2 - 37 6057 c.5933C>T c.(5932-5934)cCa>cTa p.P1978L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1978 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CACAGTGACTGGTAGGGCCTG 0.512000 38 39 0 0 1 0 0 SNRPD2 6633 broad.mit.edu 37 19 46191731 46191731 + Silent SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:46191731G>C ENST00000342669.3 - 2 540 c.96C>G c.(94-96)ctC>ctG p.L32L SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000590212.1_Silent_p.L32L|SNRPD2_ENST00000391932.3_Silent_p.L22L|SNRPD2_ENST00000587367.1_Silent_p.L22L|SNRPD2_ENST00000588599.1_Silent_p.L22L|SNRPD2_ENST00000588301.1_Silent_p.L32L NM_004597.5 NP_004588.1 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 32 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) CTGACTGTGTGAGCACAGAGA 0.542000 17 68 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75283755 75283755 + Missense_Mutation SNP A A C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:75283755A>C ENST00000325680.7 + 14 5931 c.5807A>C c.(5806-5808)gAc>gCc p.D1936A YLPM1_ENST00000552421.1_Missense_Mutation_p.D1230A|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1701A NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1741 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCCATCAATGACAGAGTTAGG 0.408000 9 15 0 0 1 0 0 RPA3 6119 broad.mit.edu 37 7 7680043 7680043 + Missense_Mutation SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:7680043C>A ENST00000223129.4 - 5 1178 c.7G>T c.(7-9)Gac>Tac p.D3Y RPA3_ENST00000396682.2_Missense_Mutation_p.D3Y|RPA3_ENST00000406109.1_Intron NM_002947.3 NP_002938.1 P35244 RFA3_HUMAN replication protein A3, 14kDa 3 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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 cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) TCCATCATGTCCACCATGATT 0.587000 Direct reversal of damage;Nucleotide excision repair (NER) 13 45 0.000151284 0.000157968 1 1 0 GPRC5C 55890 broad.mit.edu 37 17 72436480 72436480 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:72436480C>T ENST00000392627.1 + 2 1826 c.700C>T c.(700-702)Cag>Tag p.Q234* GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Nonsense_Mutation_p.Q201*|GPRC5C_ENST00000342648.5_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 189 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GGGCGGCCCTCAGGGCAACAG 0.612000 20 19 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 6 242 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99704883 99704883 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:99704883G>A ENST00000344095.4 - 15 2545 c.2020C>T c.(2020-2022)Cag>Tag p.Q674* TAF6_ENST00000418432.2_Nonsense_Mutation_p.Q598*|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Nonsense_Mutation_p.Q731*|TAF6_ENST00000452041.1_Nonsense_Mutation_p.Q674*|TAF6_ENST00000437822.2_Nonsense_Mutation_p.Q711*|TAF6_ENST00000453269.2_Nonsense_Mutation_p.Q674* NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 674 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGAGCAGGCTGAGGGGAGCCG 0.627000 7 19 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 172735776 172735776 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr4:172735776C>T ENST00000506823.1 + 2 702 c.45C>T c.(43-45)ttC>ttT p.F15F GALNTL6_ENST00000511251.1_Silent_p.F15F NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 15 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 CTTTGTTGTTCACGGTGGCTT 0.473000 21 34 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7759106 7759106 + Missense_Mutation SNP A A C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:7759106A>C ENST00000547372.1 + 16 1532 c.1226A>C c.(1225-1227)cAg>cCg p.Q409P RBFOX1_ENST00000311745.5_Silent_p.P369P|RBFOX1_ENST00000550418.1_Silent_p.P348P|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Q383P|RBFOX1_ENST00000547338.1_Silent_p.P348P|RBFOX1_ENST00000553186.1_Silent_p.P321P|RBFOX1_ENST00000436368.2_Silent_p.P369P|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Q387P|RBFOX1_ENST00000422070.4_Silent_p.P391P|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Q323P|RBFOX1_ENST00000340209.4_Silent_p.P353P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 75 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CACTTGCTCCAGCCCCCACCT 0.522000 6 68 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45285711 45285711 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:45285711C>G ENST00000270279.3 + 4 805 c.742C>G c.(742-744)Caa>Gaa p.Q248E CBLC_ENST00000341505.4_Missense_Mutation_p.Q248E NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 248 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) TGATGAGGTCCAAGAGCGTCT 0.627000 M AML 21 39 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103899698 103899698 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr10:103899698G>T ENST00000278070.2 + 5 1472 c.1433G>T c.(1432-1434)aGg>aTg p.R478M PPRC1_ENST00000413464.2_Missense_Mutation_p.R478M NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TATGCCAGGAGGCTGAGGTCA 0.542000 3 34 1 1 1 1 0 ZMAT2 153527 broad.mit.edu 37 5 140085332 140085332 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:140085332G>T ENST00000274712.3 + 6 718 c.591G>T c.(589-591)aaG>aaT p.K197N NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 197 nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCAAGAAGAGTTACTGAG 0.493000 18 56 4.96729e-08 5.42645e-08 1 1 0 ZNF182 7569 broad.mit.edu 37 X 47842712 47842712 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:47842712C>T ENST00000396965.1 - 5 522 c.172G>A c.(172-174)Gag>Aag p.E58K ZNF182_ENST00000305127.6_Missense_Mutation_p.E58K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E39K NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 CTGTAGGTCTCCAGCATCACG 0.468000 29 58 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947202 237947202 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:237947202G>A ENST00000366574.2 + 90 12507 c.12190G>A c.(12190-12192)Gaa>Aaa p.E4064K RYR2_ENST00000360064.6_Missense_Mutation_p.E4070K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4048K|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4064 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTCAGAAACGGAATTTCTTTT 0.478000 7 15 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018914 36018914 + Silent SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:36018914G>C ENST00000452271.2 - 1 298 c.270C>G c.(268-270)ctC>ctG p.L90L SBSN_ENST00000518157.1_Silent_p.L90L NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 90 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGCCGTGGTTGAGCCCCTGGA 0.552000 38 71 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365500 37365500 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:37365500C>G ENST00000361924.2 + 14 2497 c.2123C>G c.(2122-2124)tCt>tGt p.S708C GOLGA4_ENST00000356847.4_Missense_Mutation_p.S730C|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 708 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAGGAACTTTCTGTTCTGAAA 0.358000 24 25 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223554168 223554168 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:223554168G>A ENST00000446656.3 + 3 458 c.458G>A c.(457-459)cGa>cAa p.R153Q NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 153 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) CCTGTCTTTCGAGAATATGTG 0.463000 20 42 0 0 1 0 0 DUSP11 8446 broad.mit.edu 37 2 73994324 73994324 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:73994324C>T ENST00000272444.3 - 6 687 c.646G>A c.(646-648)Gat>Aat p.D216N DUSP11_ENST00000480948.1_5'UTR NM_003584.2 NP_003575.2 O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 169 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 CCTTCTACATCAATCAAATAT 0.299000 11 97 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45507591 45507591 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr21:45507591G>A ENST00000291574.4 + 17 2726 c.2551G>A c.(2551-2553)Gag>Aag p.E851K NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 851 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ACAGTCTTCTGAGGCCGCGCT 0.527000 17 31 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042310 75042310 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:75042310G>T ENST00000343932.4 + 2 294 c.231G>T c.(229-231)caG>caT p.Q77H NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 77 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) ACGTCCTGCAGATCCGCATTG 0.682000 12 30 0.0809354 0.0815628 1 1 0 NEMF 9147 broad.mit.edu 37 14 50267267 50267267 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:50267267G>C ENST00000298310.5 - 23 2692 c.2243C>G c.(2242-2244)tCt>tGt p.S748C NEMF_ENST00000546046.1_Missense_Mutation_p.S727C|NEMF_ENST00000545773.1_Missense_Mutation_p.S706C|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 748 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 TTCGTCTTCAGAGCTTTCTTC 0.418000 31 85 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95085758 95085758 + Missense_Mutation SNP A A G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:95085758A>G ENST00000545558.1 - 3 659 c.167T>C c.(166-168)aTc>aCc p.I56T NOL8_ENST00000542053.1_5'UTR|NOL8_ENST00000358855.4_5'UTR|NOL8_ENST00000543985.1_5'UTR|NOL8_ENST00000442668.2_Missense_Mutation_p.I56T|NOL8_ENST00000535387.1_Missense_Mutation_p.I56T Q76FK4 NOL8_HUMAN nucleolar protein 8 56 RRM. DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 ACTGATGTTGATATATGCAAA 0.308000 8 19 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87898678 87898678 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr10:87898678G>A ENST00000327946.7 - 4 709 c.624C>T c.(622-624)ctC>ctT p.L208L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 208 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TCGTGGTGAAGAGGCTGGTGA 0.577000 Multiple Myeloma(13;0.14) 44 112 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101565153 101565153 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr10:101565153G>C ENST00000370449.4 + 11 1592 c.1479G>C c.(1477-1479)aaG>aaC p.K493N NM_000392.3 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 493 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAAATATGAAGAATAAAGACA 0.423000 11 51 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76481699 76481699 + Silent SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:76481699C>G ENST00000389840.5 - 47 7498 c.7374G>C c.(7372-7374)ctG>ctC p.L2458L DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.L2467L|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGTCCGTGTTCAGGCTTTCCA 0.627000 7 25 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208723 106208723 + RNA SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:106208723C>G ENST00000390548.2 - 0 295 GATTTGGGCTCTGCAGAGAGA 0.587000 59 121 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37665633 37665633 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr21:37665633G>C ENST00000399151.3 + 37 6746 c.6661G>C c.(6661-6663)Gat>Cat p.D2221H NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2221 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CAGTAGCTCTGATGAGATCAC 0.448000 29 47 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109459059 109459059 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:109459059G>C ENST00000356711.2 + 7 834 c.708G>C c.(706-708)gaG>gaC p.E236D MYO16_ENST00000357550.2_Missense_Mutation_p.E236D|MYO16_ENST00000251041.5_Missense_Mutation_p.E236D NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 236 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCTACAAGGAGGTGGTGTCTC 0.458000 5 78 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58571038 58571038 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:58571038G>C ENST00000317147.5 - 39 5833 c.5501C>G c.(5500-5502)tCt>tGt p.S1834C CNOT1_ENST00000569240.1_Missense_Mutation_p.S1829C|CNOT1_ENST00000245138.4_Missense_Mutation_p.S685C NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1834 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGAGATCCCAGAATGCATCAT 0.478000 38 70 0 0 1 0 0 PRTN3 5657 broad.mit.edu 37 19 847847 847847 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:847847G>C ENST00000544537.2 + 4 708 c.526G>C c.(526-528)Gac>Cac p.D176H PRTN3_ENST00000234347.5_Missense_Mutation_p.D217H P24158 PRTN3_HUMAN proteinase 3 217 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity lung(1)|ovary(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCAAGGAATAGACTCCTTCGT 0.612000 4 7 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107314747 107314747 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:107314747G>T ENST00000265715.3 + 5 778 c.554G>T c.(553-555)aGa>aTa p.R185I NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 185 R -> T (found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GATACAGCTAGAGTCCTGATT 0.398000 Pendred syndrome 8 55 0.000442599 0.000458469 1 1 0 TBC1D8B 54885 broad.mit.edu 37 X 106093528 106093528 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:106093528C>T ENST00000357242.5 + 12 2285 c.2111C>T c.(2110-2112)aCa>aTa p.T704I TBC1D8B_ENST00000276175.3_Missense_Mutation_p.T698I NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 704 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GAAGCTGTGACAGCCTTAAAC 0.378000 10 71 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99849333 99849333 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr6:99849333C>G ENST00000369239.5 - 12 1705 c.1501G>C c.(1501-1503)Gaa>Caa p.E501Q PNISR_ENST00000438806.1_Missense_Mutation_p.E501Q NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 501 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TTTTCTTTTTCTTTATGCTCT 0.388000 34 39 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31350878 31350878 + Splice_Site SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:31350878C>G ENST00000225823.2 - 6 2222 c.e6+1 ASIC2_ENST00000359872.6_Splice_Site NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTAAACTTACGAGATATATT 0.438000 28 43 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147170 55147170 + Nonsense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr6:55147170C>G ENST00000370862.3 + 7 1589 c.1253C>G c.(1252-1254)tCa>tGa p.S418* NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 418 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GATAACATATCAAAACTTTCT 0.473000 3 32 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73565329 73565329 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:73565329G>A ENST00000392550.3 + 14 1621 c.1504G>A c.(1504-1506)Gac>Aac p.D502N LLGL2_ENST00000577200.1_Missense_Mutation_p.D502N|LLGL2_ENST00000167462.5_Missense_Mutation_p.D502N NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 502 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding p.D502N(1) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CTACAGTGATGACCCCCGGCT 0.672000 22 34 0 0 1 0 0 CATSPER3 347732 broad.mit.edu 37 5 134346110 134346110 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:134346110G>A ENST00000282611.6 + 7 1070 c.984G>A c.(982-984)aaG>aaA p.K328K NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 328 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAACTTTAAGAAGACCTTGA 0.468000 11 57 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397353 5397353 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr18:5397353C>T ENST00000341928.2 - 18 2885 c.2545G>A c.(2545-2547)Gag>Aag p.E849K EPB41L3_ENST00000542146.1_Missense_Mutation_p.E154K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E849K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E627K|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E627K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E680K|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E146K NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 849 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ACCACCTTCTCAGTGCTAAGC 0.592000 5 41 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 52 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333863 138333863 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:138333863G>A ENST00000421622.1 - 4 402 c.194C>T c.(193-195)tCc>tTc p.S65F SVOPL_ENST00000288513.5_Missense_Mutation_p.S33F|SVOPL_ENST00000419765.3_Missense_Mutation_p.S185F|SVOPL_ENST00000436657.1_Missense_Mutation_p.S33F Q8N434 SVOPL_HUMAN SVOP-like 185 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GATGAGCAGGGAGCCCGCAAG 0.488000 11 40 0 0 1 0 0 OGN 4969 broad.mit.edu 37 9 95165608 95165608 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:95165608G>A ENST00000262551.4 - 2 502 c.82C>T c.(82-84)Cgc>Tgc p.R28C CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.R28C NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 28 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 TAGATAATGCGTGAGTCCTGC 0.378000 22 64 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73678021 73678021 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:73678021C>T ENST00000264448.6 + 8 4475 c.4364C>T c.(4363-4365)tCa>tTa p.S1455L ALMS1_ENST00000409009.1_Missense_Mutation_p.S1413L|ALMS1_ENST00000377715.1_Missense_Mutation_p.S1455L NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1455 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTGGAAGTTTCAGTTGCTCCT 0.478000 49 112 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94545986 94545986 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:94545986C>T ENST00000330836.5 - 2 234 c.103G>A c.(103-105)Gac>Aac p.D35N DDX24_ENST00000555054.1_Intron|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 35 RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) ATATTTGGGTCAATCTTCACT 0.443000 44 187 0 0 1 0 0 RPRML 388394 broad.mit.edu 37 17 45056104 45056104 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:45056104G>A ENST00000322329.3 - 1 510 c.270C>T c.(268-270)aaC>aaT p.N90N RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA NM_203400.4 NP_981945.1 Q8N4K4 RPRML_HUMAN reprimo-like 90 integral to membrane lung(1) 1 TGATGAGCAGGTTGCAGCCCA 0.647000 3 13 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91161866 91161866 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:91161866C>T ENST00000357056.2 - 6 876 c.755G>A c.(754-756)aGa>aAa p.R252K TTC7B_ENST00000328459.6_Missense_Mutation_p.R252K Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 252 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) TTGAGTCGTTCTTGTTTCAAC 0.408000 36 53 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167204 140167204 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:140167204G>A ENST00000504120.2 + 1 1329 c.1329G>A c.(1327-1329)gtG>gtA p.V443V PCDHA1_ENST00000378133.3_Silent_p.V443V|PCDHA1_ENST00000394633.3_Silent_p.V443V NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGTCCGTGGAGGTGGCCG 0.667000 14 100 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307227 2307227 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr4:2307227G>T ENST00000290974.2 - 8 1179 c.840C>A c.(838-840)caC>caA p.H280Q ZFYVE28_ENST00000515312.1_Missense_Mutation_p.H210Q|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.H250Q|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 280 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GTTCCAGCGTGTGCAGCTCCT 0.627000 10 16 1.58986e-06 1.70109e-06 1 1 0 USP45 85015 broad.mit.edu 37 6 99894186 99894186 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr6:99894186C>T ENST00000327681.6 - 14 1994 c.1462G>A c.(1462-1464)Gat>Aat p.D488N USP45_ENST00000392738.2_Missense_Mutation_p.D168N|USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.D488N|USP45_ENST00000369233.2_Missense_Mutation_p.D440N NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 488 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TCACTGTCATCAGTAGGGCTT 0.423000 36 40 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44948987 44948987 + Splice_Site SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:44948987G>C ENST00000377967.4 + 25 3589 c.e25-1 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCTTATTTCAGAAATAATTTG 0.323000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 23 33 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48522461 48522461 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr20:48522461G>A ENST00000422556.1 - 3 1607 c.1258C>T c.(1258-1260)Cat>Tat p.H420Y SPATA2_ENST00000543716.1_Missense_Mutation_p.H283Y|SPATA2_ENST00000289431.5_Missense_Mutation_p.H420Y NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 420 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGGCTGTCATGAGTCGAGGCC 0.662000 7 20 0 0 1 0 0 VPS36 51028 broad.mit.edu 37 13 53024700 53024700 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:53024700G>A ENST00000378060.4 - 1 57 c.30C>T c.(28-30)ctC>ctT p.L10L NM_001282168.1|NM_001282169.1|NM_016075.2 NP_001269097.1|NP_001269098.1|NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 10 GLUE N-terminal. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) TGATCTCCAGGAGGCCGCTGG 0.701000 5 19 0 0 1 0 0 RARS 5917 broad.mit.edu 37 5 167919789 167919789 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:167919789G>A ENST00000231572.3 + 3 360 c.306G>A c.(304-306)gtG>gtA p.V102V RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 102 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) CTCTGCTAGTGACACCAAGTC 0.403000 22 85 0 0 1 0 0 PARK7 11315 broad.mit.edu 37 1 8025425 8025425 + Silent SNP A A G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:8025425A>G ENST00000493678.1 + 3 199 c.132A>G c.(130-132)gtA>gtG p.V44V PARK7_ENST00000377493.5_Silent_p.V44V|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Silent_p.V44V|PARK7_ENST00000338639.5_Silent_p.V44V|PARK7_ENST00000377491.1_Silent_p.V44V Q99497 PARK7_HUMAN parkinson protein 7 44 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) AAGACCCAGTACAGTGTAGCC 0.408000 15 49 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55818155 55818155 + Silent SNP T T C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr14:55818155T>C ENST00000313833.4 + 2 1292 c.1047T>C c.(1045-1047)gaT>gaC p.D349D FBXO34_ENST00000440021.1_Silent_p.D349D NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 349 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 TATCTGTGGATTGTGGCCCTT 0.542000 24 41 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52604165 52604165 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:52604165G>C ENST00000521776.2 + 2 1958 c.1225G>C c.(1225-1227)Gaa>Caa p.E409Q NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 409 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TGAGGCAGAAGAAAGACCAGT 0.502000 12 32 0 0 1 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 4 68 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998290 27998290 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:27998290C>T ENST00000441525.1 - 1 1276 c.1162G>A c.(1162-1164)Gat>Aat p.D388N NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 388 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GTTGGGAAATCACAATAAACC 0.408000 19 46 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51287509 51287509 + Silent SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:51287509C>A ENST00000395542.2 - 2 358 c.174G>T c.(172-174)ctG>ctT p.L58L COBL_ENST00000395540.2_Silent_p.L58L|COBL_ENST00000441453.1_Silent_p.L58L|COBL_ENST00000265136.7_Silent_p.L58L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 58 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCTGGCCCTCAGCGCCTCCT 0.642000 9 36 1.12685e-05 1.19098e-05 1 1 0 MARCH7 64844 broad.mit.edu 37 2 160585519 160585519 + Splice_Site SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:160585519G>C ENST00000259050.4 + 2 108 c.e2-1 MARCH7_ENST00000539065.1_Splice_Site|MARCH7_ENST00000473749.1_Splice_Site|MARCH7_ENST00000409175.1_Splice_Site NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TTATTTCACAGAAAAATCTTT 0.333000 16 19 0 0 1 0 0 PIP 5304 broad.mit.edu 37 7 142836242 142836242 + Silent SNP C C T rs141238396 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr7:142836242C>T ENST00000291009.3 + 3 316 c.276C>T c.(274-276)gaC>gaT p.D92D NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 92 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) GCCTATGTGACGACAATCCAA 0.468000 20 70 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224619465 224619465 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:224619465G>A ENST00000414423.2 - 2 634 c.441C>T c.(439-441)ctC>ctT p.L147L WDR26_ENST00000366852.2_Silent_p.L147L|WDR26_ENST00000295024.6_5'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 147 LisH. cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) ACTCTTGCATGAGGAGATCAA 0.398000 18 67 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 61007912 61007912 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:61007912C>T ENST00000238714.3 + 10 1153 c.904C>T c.(904-906)Cgg>Tgg p.R302W PAPOLG_ENST00000483370.1_3'UTR NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 302 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) CTGGGATCCTCGGGTATGTGA 0.383000 15 66 0 0 1 0 0 HDAC1 3065 broad.mit.edu 37 1 32793253 32793253 + Missense_Mutation SNP A A C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:32793253A>C ENST00000373548.3 + 6 695 c.611A>C c.(610-612)tAc>tCc p.Y204S HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.Y11S NM_004964.2 NP_004955.2 Q13547 HDAC1_HUMAN histone deacetylase 1 204 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TATGGAGAGTACTTCCCAGGA 0.532000 7 46 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420310 53420310 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:53420310G>A ENST00000377942.3 - 1 2465 c.2262C>T c.(2260-2262)atC>atT p.I754I PCDH8_ENST00000338862.4_Silent_p.I754I NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 754 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGGCCAGCACGATGATGACGA 0.701000 5 42 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113461187 113461187 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr4:113461187C>T ENST00000505019.1 - 27 6129 c.6004G>A c.(6004-6006)Gag>Aag p.E2002K RP11-402J6.1_ENST00000504009.1_RNA NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATAATGATCTCCTTTTCAGCT 0.398000 7 10 0 0 1 0 0 ST20 400410 broad.mit.edu 37 15 80191373 80191373 + Missense_Mutation SNP T T G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:80191373T>G ENST00000478497.1 - 3 819 c.140A>C c.(139-141)gAa>gCa p.E47A ST20_ENST00000562759.1_Missense_Mutation_p.E47A|ST20_ENST00000485386.1_Missense_Mutation_p.E47A|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron NM_001100879.1 NP_001094349.1 suppressor of tumorigenicity 20 kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 CAGTATTGCTTCAGGACAGAA 0.388000 4 82 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65245211 65245211 + Silent SNP G G A rs115498588 byFrequency TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:65245211G>A ENST00000234256.3 + 6 1284 c.1041G>A c.(1039-1041)gcG>gcA p.A347A SLC1A4_ENST00000531327.1_Silent_p.A49A NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 347 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CTAGCTCAGCGACCCTTCCCT 0.502000 8 58 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44876219 44876219 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:44876219C>G ENST00000261866.7 - 30 5675 c.5659G>C c.(5659-5661)Gat>Cat p.D1887H SPG11_ENST00000535302.2_Missense_Mutation_p.D1887H|SPG11_ENST00000427534.2_Missense_Mutation_p.D1887H|SPG11_ENST00000558319.1_Missense_Mutation_p.D1887H NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1887 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAGCCATCATCCAGTAGGCGC 0.443000 41 86 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41204495 41204495 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:41204495G>A ENST00000399959.2 + 11 1943 c.1088G>A c.(1087-1089)aGa>aAa p.R363K DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R347K|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 363 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 CAGATTCGTAGAATAGTCGAA 0.408000 HNSCC(61;0.18) 17 132 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14768468 14768468 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:14768468G>A ENST00000253697.3 + 11 2079 c.1627G>A c.(1627-1629)Gag>Aag p.E543K C3orf20_ENST00000435614.1_Missense_Mutation_p.E421K|C3orf20_ENST00000412910.1_Missense_Mutation_p.E421K NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 543 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGCCCTGGCTGAGATCAAGAA 0.542000 17 21 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042595 75042595 + Silent SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:75042595G>C ENST00000343932.4 + 2 579 c.516G>C c.(514-516)ctG>ctC p.L172L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 172 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CTAAGGCCCTGATCAGCAGGT 0.587000 30 61 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52962747 52962747 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:52962747C>T ENST00000371544.3 - 5 1370 c.1108G>A c.(1108-1110)Gat>Aat p.D370N ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D370N NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 370 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AGGTCATCATCTGTTATTCCA 0.398000 8 46 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37618547 37618547 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:37618547G>T ENST00000447079.4 + 1 256 c.223G>T c.(223-225)Gat>Tat p.D75Y CDK12_ENST00000430627.2_Missense_Mutation_p.D75Y NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 75 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GGAGTATGATGATATCAGCTC 0.532000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 3 51 0.115264 0.115709 1 1 0 VAT1 10493 broad.mit.edu 37 17 41168126 41168126 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr17:41168126C>G ENST00000355653.3 - 6 1229 c.1134G>C c.(1132-1134)aaG>aaC p.K378N VAT1_ENST00000587173.1_Missense_Mutation_p.K310N|VAT1_ENST00000420567.3_Missense_Mutation_p.K244N NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 378 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) TGCCCACATTCTTCTTCTCCT 0.557000 102 148 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228491470 228491470 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:228491470C>T ENST00000570156.2 + 52 13907 c.13833C>T c.(13831-13833)ccC>ccT p.P4611P OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Silent_p.P1301P|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3654 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGCGGCCCCCGTGGAGTGGC 0.612000 28 79 0 0 1 0 0 PLS3 5358 broad.mit.edu 37 X 114877631 114877631 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:114877631G>C ENST00000420625.2 + 10 1128 c.994G>C c.(994-996)Gat>Cat p.D332H PLS3_ENST00000289290.3_Missense_Mutation_p.D296H|PLS3_ENST00000537301.1_Missense_Mutation_p.D319H|PLS3_ENST00000355899.3_Missense_Mutation_p.D332H|PLS3_ENST00000539310.1_Missense_Mutation_p.D287H|PLS3_ENST00000543070.1_Intron NM_001136025.3|NM_001172335.1|NM_001282338.1 NP_001129497.1|NP_001165806.1|NP_001269267.1 P13797 PLST_HUMAN plastin 3 332 Actin-binding 1.|CH 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 ACAGGAAACAGATGATTTGAA 0.393000 18 70 0 0 1 0 0 ZMAT2 153527 broad.mit.edu 37 5 140085340 140085340 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr5:140085340G>A ENST00000274712.3 + 6 726 c.599G>A c.(598-600)tGa>tAa p.*200* NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 0 nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAGTTACTGAGGCTTTCTG 0.493000 17 52 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154055956 154055956 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:154055956G>T ENST00000389740.2 - 4 1827 c.1728C>A c.(1726-1728)agC>agA p.S576R NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 576 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCCCTTCTGCGCTTACCTCAT 0.463000 51 138 1.86277e-20 2.09662e-20 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12557613 12557613 + Missense_Mutation SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:12557613C>A ENST00000358136.3 + 68 12852 c.12722C>A c.(12721-12723)cCc>cAc p.P4241H VPS13D_ENST00000356315.4_Missense_Mutation_p.P4216H|VPS13D_ENST00000543710.1_Missense_Mutation_p.P45H|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.P239H NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4240 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGGCTGCTTCCCCGATATTCT 0.532000 3 45 0.014758 0.0149886 1 1 0 ZNF583 147949 broad.mit.edu 37 19 56935499 56935499 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:56935499C>T ENST00000333201.9 + 5 1682 c.1472C>T c.(1471-1473)cCt>cTt p.P491L ZNF583_ENST00000291598.7_Missense_Mutation_p.P491L|ZNF583_ENST00000585612.1_Intron NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) GGAGAGAAACCTTATGAATGT 0.373000 17 67 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49176771 49176771 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:49176771C>G ENST00000307885.4 - 1 1141 c.447G>C c.(445-447)caG>caC p.Q149H ADCY6_ENST00000550422.1_Missense_Mutation_p.Q149H|ADCY6_ENST00000357869.3_Missense_Mutation_p.Q149H NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 149 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TCAGGCTGCTCTGGTTCATCT 0.647000 12 24 0 0 1 0 0 RPRM 56475 broad.mit.edu 37 2 154334957 154334957 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:154334957G>T ENST00000325926.3 - 1 365 c.123C>A c.(121-123)ttC>ttA p.F41L AC012501.2_ENST00000424322.1_RNA NM_019845.2 NP_062819.1 Q9NS64 RPRM_HUMAN reprimo, TP53 dependent G2 arrest mediator candidate 41 cell cycle arrest cytoplasm|integral to membrane protein binding large_intestine(2)|lung(1)|prostate(1) 4 CTCCCTCCGCGAAGCCGTCGT 0.667000 6 19 3.59834e-05 3.78772e-05 1 1 0 KIF27 55582 broad.mit.edu 37 9 86457210 86457210 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:86457210C>T ENST00000297814.2 - 17 3806 c.3663G>A c.(3661-3663)aaG>aaA p.K1221K KIF27_ENST00000334204.2_Silent_p.K1124K|KIF27_ENST00000413982.1_Silent_p.K1155K|RP11-575L7.4_ENST00000591217.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1221 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TAAGTTTCTTCTTATGATCCC 0.383000 32 33 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7174624 7174624 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:7174624C>T ENST00000341500.5 - 4 1132 c.1093G>A c.(1093-1095)Ggg>Agg p.G365R INSR_ENST00000302850.5_Missense_Mutation_p.G365R NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 365 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCAGACTCCCGTTGATGACG 0.612000 8 44 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75609037 75609037 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr10:75609037G>A ENST00000423381.1 - 6 519 c.396C>T c.(394-396)atC>atT p.I132I CAMK2G_ENST00000322635.3_Silent_p.I132I|CAMK2G_ENST00000305762.7_Silent_p.I132I|CAMK2G_ENST00000322680.3_Silent_p.I132I|CAMK2G_ENST00000351293.3_Silent_p.I132I|CAMK2G_ENST00000394762.2_Silent_p.I132I|CAMK2G_ENST00000372765.1_Silent_p.I132I|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000472912.1_5'UTR NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 132 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity p.I132I(2) kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CCCTGTGGACGATGTCATGCT 0.522000 OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 13 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44071666 44071666 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:44071666G>A ENST00000378832.1 + 2 615 c.559G>A c.(559-561)Gaa>Aaa p.E187K NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 187 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 TCTGATGACTGAAAGAGTAAG 0.512000 13 61 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52604156 52604156 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:52604156G>T ENST00000521776.2 + 2 1949 c.1216G>T c.(1216-1218)Gag>Tag p.E406* NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 406 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TTCTGCAAGTGAGGCAGAAGA 0.493000 12 35 1.08611e-07 1.18154e-07 1 1 0 ZEB2 9839 broad.mit.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:145147383C>T ENST00000558170.2 - 10 4464 c.3280G>A c.(3280-3282)Gag>Aag p.E1094K ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1094 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.E1094K(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCGCGCGCCTCGCGCTCCGCC 0.617000 4 59 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183211937 183211937 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:183211937C>G ENST00000341319.3 - 5 1315 c.1280G>C c.(1279-1281)gGa>gCa p.G427A NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 427 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTCAAAGCCTCCGATCACATA 0.458000 31 64 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202698960 202698960 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:202698960C>A ENST00000367265.3 - 26 5536 c.4372G>T c.(4372-4374)Gaa>Taa p.E1458* KDM5B_ENST00000367264.2_Nonsense_Mutation_p.E1494* NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1458 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CGAACTAATTCATAGCTACGC 0.463000 69 182 7.33394e-39 8.29054e-39 1 1 0 CDR1 1038 broad.mit.edu 37 X 139865950 139865950 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:139865950C>T ENST00000370532.2 - 1 773 c.582G>A c.(580-582)tgG>tgA p.W194* NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 194 5 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCTGAAGATCCACGTCTTCC 0.438000 42 100 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187519392 187519392 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:187519392C>G ENST00000261023.3 + 16 1795 c.1521C>G c.(1519-1521)ttC>ttG p.F507L AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.F461L|ITGAV_ENST00000374907.3_Missense_Mutation_p.F471L NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 507 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATGTTAGGTTCTGCTTAAAGG 0.294000 18 36 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530562 80530562 + Missense_Mutation SNP A A C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:80530562A>C ENST00000295057.3 - 2 1039 c.383T>G c.(382-384)cTg>cGg p.L128R CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.L128R|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 128 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GGTGTTGGGCAGTTGGGTGAT 0.607000 HNSCC(69;0.2) 22 53 0 0 1 0 0 ZNF581 51545 broad.mit.edu 37 19 56156236 56156236 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr19:56156236C>G ENST00000587252.1 + 2 572 c.299C>G c.(298-300)tCc>tGc p.S100C ZNF581_ENST00000588537.1_Missense_Mutation_p.S100C|ZNF581_ENST00000270451.5_Missense_Mutation_p.S100C Q9P0T4 ZN581_HUMAN zinc finger protein 581 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GAGTACATGTCCTACCTTCAG 0.602000 5 41 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30872938 30872938 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chrX:30872938G>T ENST00000378933.1 - 3 1021 c.844C>A c.(844-846)Ccc>Acc p.P282T TAB3_ENST00000378932.2_Missense_Mutation_p.P282T|TAB3_ENST00000288422.2_Missense_Mutation_p.P282T|TAB3_ENST00000378930.3_Missense_Mutation_p.P282T NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 282 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 TGCTGTTTGGGAGAATACTGA 0.527000 7 27 0.00307968 0.00316489 1 1 0 APOB 338 broad.mit.edu 37 2 21233296 21233296 + Missense_Mutation SNP C C A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:21233296C>A ENST00000233242.1 - 26 6571 c.6444G>T c.(6442-6444)aaG>aaT p.K2148N NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2148 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAATTCTATACTTTTTTGTGA 0.333000 7 99 0.00198382 0.0020468 1 1 0 FHL2 2274 broad.mit.edu 37 2 105990124 105990124 + Missense_Mutation SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:105990124G>T ENST00000409177.1 - 3 692 c.571C>A c.(571-573)Ctg>Atg p.L191M FHL2_ENST00000344213.4_Missense_Mutation_p.L185M|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Missense_Mutation_p.L75M|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000408995.1_Missense_Mutation_p.L75M|FHL2_ENST00000393352.3_Missense_Mutation_p.L75M|FHL2_ENST00000409807.1_Missense_Mutation_p.L75M|FHL2_ENST00000358129.4_Missense_Mutation_p.L75M|FHL2_ENST00000393353.3_Missense_Mutation_p.L75M Q14192 FHL2_HUMAN four and a half LIM domains 2 75 LIM zinc-binding 3. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding p.L75L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 TTGTCCACCAGTGAGTTTCTG 0.542000 13 24 2.27111e-07 2.46037e-07 1 1 0 CCDC23 374969 broad.mit.edu 37 1 43273169 43273169 + Silent SNP G G T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:43273169G>T ENST00000372521.4 - 3 215 c.117C>A c.(115-117)atC>atA p.I39I CCDC23_ENST00000537227.1_Silent_p.I39I|CCDC23_ENST00000372522.1_Silent_p.I39I NM_199342.3 NP_955374.1 Q8N300 CCD23_HUMAN coiled-coil domain containing 23 39 large_intestine(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAGGGCATAGATCTGAATGA 0.453000 9 49 1.76689e-08 1.93836e-08 1 1 0 DCUN1D3 123879 broad.mit.edu 37 16 20871598 20871598 + Silent SNP T T C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:20871598T>C ENST00000324344.4 - 3 810 c.525A>G c.(523-525)caA>caG p.Q175Q ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.Q175Q NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) ATTTATCCTCTTGTTTGGCTT 0.478000 9 100 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83334220 83334220 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:83334220G>A ENST00000261722.3 - 16 2167 c.1960C>T c.(1960-1962)Cgc>Tgc p.R654C AP3B2_ENST00000535359.1_Missense_Mutation_p.R654C|AP3B2_ENST00000535348.1_Missense_Mutation_p.R622C|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 654 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TCCACGTTGCGCACAGATGGG 0.602000 13 42 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44207058 44207058 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:44207058G>C ENST00000260665.7 - 3 433 c.376C>G c.(376-378)Cta>Gta p.L126V LRPPRC_ENST00000409946.1_Missense_Mutation_p.L126V|LRPPRC_ENST00000409659.1_Missense_Mutation_p.L126V NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 126 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTACGTAGTAGAAGCAAGGCA 0.368000 16 30 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52603988 52603988 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:52603988G>A ENST00000521776.2 + 2 1781 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 350 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GGGAGGCACAGAAGTGGAAGA 0.527000 18 47 0 0 1 0 0 UBA3 9039 broad.mit.edu 37 3 69117079 69117079 + Splice_Site SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:69117079G>A ENST00000361055.4 - 6 482 c.428C>T c.(427-429)cCa>cTa p.P143L UBA3_ENST00000349511.4_Splice_Site_p.P129L|UBA3_ENST00000415609.2_Splice_Site_p.P102L|UBA3_ENST00000540295.1_Intron NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 143 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) AAAAGGATACGGAACTACATT 0.299000 20 39 0 0 1 0 0 HSPB11 51668 broad.mit.edu 37 1 54387340 54387340 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr1:54387340G>A ENST00000194214.5 - 6 808 c.419C>T c.(418-420)tCa>tTa p.S140L HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR NM_016126.2 NP_057210.2 Q9Y547 HSB11_HUMAN heat shock protein family B (small), member 11 140 cell adhesion|response to stress breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 9 GGAAAGATTTGAGACTACTGT 0.333000 18 61 0 0 1 0 0 VWC2L 402117 broad.mit.edu 37 2 215301365 215301365 + Missense_Mutation SNP G G C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:215301365G>C ENST00000312504.5 + 3 1205 c.403G>C c.(403-405)Gaa>Caa p.E135Q VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 135 VWFC 2. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 CTCTCCATGTGAATGGTGTCG 0.443000 20 35 0 0 1 0 0 CENPO 79172 broad.mit.edu 37 2 25039532 25039532 + Silent SNP C C T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr2:25039532C>T ENST00000380834.2 + 6 1037 c.612C>T c.(610-612)ctC>ctT p.L204L CENPO_ENST00000260662.1_Silent_p.L204L|CENPO_ENST00000473706.1_Silent_p.L198L|CENPO_ENST00000395845.2_Intron Q9BU64 CENPO_HUMAN centromere protein O 204 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding p.L204L(1) breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TTGCAGCCCTCCTGACTGGGC 0.493000 81 373 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31236983 31236983 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr12:31236983G>A ENST00000251758.5 + 3 632 c.381G>A c.(379-381)gtG>gtA p.V127V DDX11_ENST00000545668.1_Silent_p.V127V|DDX11_ENST00000350437.4_Silent_p.V127V|DDX11_ENST00000542838.1_Silent_p.V127V|DDX11_ENST00000407793.2_Silent_p.V127V|DDX11_ENST00000228264.6_Silent_p.V101V Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 127 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGGACCTGGTGGACCGACTAA 0.582000 Multiple Myeloma(12;0.14) 10 51 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196234835 196234835 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr3:196234835C>G ENST00000397537.2 - 3 724 c.568G>C c.(568-570)Gag>Cag p.E190Q NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 TTCCCCTTCTCAATTACCTGC 0.463000 16 19 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6662560 6662560 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr11:6662560G>A ENST00000299441.3 - 2 696 c.285C>T c.(283-285)gaC>gaT p.D95D NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 95 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTGTGTTCGTCAATGGCCA 0.632000 10 15 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974695 21974696 + Frame_Shift_Ins INS - - T TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr9:21974695_21974696insT ENST00000304494.5 - 1 401_402 c.131_132insA c.(130-132)tacfs p.Y44fs CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000494262.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 44 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.G45del(1)|p.Y44S(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCTCCGACCGTAACTATTCGG 0.683 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 67 53 --- --- --- --- LINC00423 100874167 broad.mit.edu 37 13 33469553 33469555 + RNA DEL TCC TCC - TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr13:33469553_33469555delTCC ENST00000421002.1 - 0 836 NR_047020.1 tccttctccttcctcctcctcct 0.438 3 3 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 5 8 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 84036 84053 + RNA DEL GGGAGCCTGGAAGCACAC GGGAGCCTGGAAGCACAC - rs3743872 by1000genomes TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:84036_84053delGGGAGCCTGGAAGCACAC ENST00000568710.1 - 0 349 CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA 0.633 4 3 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70013047 70013048 + RNA DEL CT CT - rs34135349 TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx a88ba1a4-5f1a-4d81-a17b-ce66fb86bc72 edc42619-b9ec-4296-bf85-d451b796ede5 g.chr16:70013047_70013048delCT ENST00000531894.1 - 0 2519 RP11-419C5.2_ENST00000525562.1_RNA NR_003610.1 GTTTTGTGAACTCTCTCTCTCT 0.396 2 4 --- --- --- ---