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 PLEKHO1 51177 broad.mit.edu 37 1 150131552 150131552 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:150131552C>T uc001ett.3 + 5 1342 c.1064C>T c.(1063-1065)aCg>aTg p.T355M PLEKHO1_uc001ets.3_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.3_Missense_Mutation_p.T183M|PLEKHO1_uc021oyc.1_Missense_Mutation_p.T172M NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA. 355 Negative regulator of AP-1 activity. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTGCTGGAGACGGAACGGCTG 0.607 TCHH 7062 broad.mit.edu 37 1 152083688 152083688 + Missense_Mutation SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:152083688C>G uc009wne.1 - 2 2277 c.2005G>C c.(2005-2007)Gag>Cag p.E669Q TCHH_uc001ezp.2_Missense_Mutation_p.E669Q NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 669 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCGCTGCTCGAGCCTCTCT 0.662 NUP210L 91181 broad.mit.edu 37 1 154110601 154110601 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:154110601C>A uc001fdw.3 - 5 903 c.831G>T c.(829-831)atG>atT p.M277I NUP210L_uc009woq.3_5'Flank|NUP210L_uc010peh.2_Missense_Mutation_p.M277I NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 277 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCCCTTGAACCATTTTTGCAA 0.343 SPTA1 6708 broad.mit.edu 37 1 158626393 158626393 + Missense_Mutation SNP G G C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:158626393G>C uc001fst.1 - 19 3058 c.2859C>G c.(2857-2859)gaC>gaG p.D953E NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 953 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D953E(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTTCATACTGTCTCCAAATG 0.413 SPTA1 6708 broad.mit.edu 37 1 158632602 158632602 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:158632602C>T uc001fst.1 - 16 2553 c.2354G>A c.(2353-2355)cGa>cAa p.R785Q NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 785 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTTCTTCTTTCGGGTGGCCAG 0.478 LAMB3 3914 broad.mit.edu 37 1 209804029 209804029 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:209804029G>A uc001hhg.3 - 7 1264 c.874C>T c.(874-876)Cgc>Tgc p.R292C LAMB3_uc009xco.3_Missense_Mutation_p.R292C|LAMB3_uc001hhh.3_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 292 Laminin EGF-like 1. R -> L (in dbSNP:rs12091253). cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGTGCACAGCGCTCACAATTT 0.597 SIPA1L2 57568 broad.mit.edu 37 1 232615447 232615447 + Missense_Mutation SNP T T C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:232615447T>C uc001hvg.3 - 4 2169 c.2011A>G c.(2011-2013)Acc>Gcc p.T671A NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 671 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGTATGTGGTATAGAGAGAG 0.448 KIAA1804 84451 broad.mit.edu 37 1 233515030 233515030 + Nonsense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:233515030C>T uc001hvt.4 + 8 2539 c.2278C>T c.(2278-2280)Cga>Tga p.R760* KIAA1804_uc001hvu.4_Nonsense_Mutation_p.R206* NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 760 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) GAAGAAGAAACGAGAGGGAAT 0.602 OR2M4 26245 broad.mit.edu 37 1 248402638 248402638 + Missense_Mutation SNP G G T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr1:248402638G>T uc010pzh.2 + 0 408 c.408G>T c.(406-408)atG>atT p.M136I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) CCATCCTCATGAATCCGAAAC 0.473 CALML5 51806 broad.mit.edu 37 10 5540984 5540984 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr10:5540984C>T uc001iic.2 - 0 550 c.418G>A c.(418-420)Gcg>Acg p.A140T NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN Homo sapiens calmodulin-like 5 (CALML5), mRNA. 140 EF-hand 4. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 AGCATCCTCGCGAACTCCTCG 0.701 SLK 9748 broad.mit.edu 37 10 105752828 105752828 + Missense_Mutation SNP A A G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr10:105752828A>G uc001kxo.1 + 3 485 c.451A>G c.(451-453)Atc>Gtc p.I151V SLK_uc001kxp.1_Missense_Mutation_p.I151V NM_014720 NP_055535 Q9H2G2 SLK_HUMAN Homo sapiens STE20-like kinase (SLK), mRNA. 151 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGATAATAAGATCATCCACAG 0.333 IFITM1 8519 broad.mit.edu 37 11 314342 314342 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:314342G>A uc001loy.4 + 0 352 c.172G>A c.(172-174)Gcc>Acc p.A58T NM_003641 NP_003632 P13164 IFM1_HUMAN Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA. 58 negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity large_intestine(1)|lung(3) 4 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CATAGCATTCGCCTACTCCGT 0.612 SYT9 143425 broad.mit.edu 37 11 7334771 7334771 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:7334771C>T uc001mfe.3 + 2 880 c.643C>T c.(643-645)Cgg>Tgg p.R215W SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 215 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.R215W(2) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TGACGGGAGACGGAGTAACAG 0.398 OR5J2 282775 broad.mit.edu 37 11 55944236 55944236 + Nonsense_Mutation SNP T T A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:55944236T>A uc010rjb.2 + 0 143 c.143T>A c.(142-144)tTa>tAa p.L48* NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) ATGATCCTCTTAATCCAAATC 0.428 POLA2 23649 broad.mit.edu 37 11 65048610 65048610 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:65048610C>A uc001odj.3 + 7 1224 c.892C>A c.(892-894)Cct>Act p.P298T POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.3_5'UTR NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 298 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TTCTCTGTTTCCTGGACAGGT 0.512 OR10G7 390265 broad.mit.edu 37 11 123909464 123909464 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr11:123909464G>A uc001pzq.1 - 0 245 c.245C>T c.(244-246)aCc>aTc p.T82I NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T82T(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGACACCAAGGTCATCAGCAT 0.532 IQSEC3 440073 broad.mit.edu 37 12 248252 248254 + In_Frame_Del DEL GAG GAG - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:248252_248254delGAG uc001qhw.2 + 3 1723_1725 c.1723_1725delGAG c.(1723-1725)gagdel p.E579del IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|LOC574538_uc001qhv.1_Intron NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 579 Poly-Glu. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) Agaggaggaagaggaggaggagg 0.700 C3AR1 719 broad.mit.edu 37 12 8211864 8211864 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:8211864G>A uc001qtv.1 - 1 1010 c.918C>T c.(916-918)taC>taT p.Y306Y C3AR1_uc021quj.1_Silent_p.Y306Y NM_004054 NP_004045 Q16581 C3AR_HUMAN Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA. 306 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GCTCAGACTCGTAGAAGGAAT 0.438 C12orf51 283450 broad.mit.edu 37 12 112622744 112622744 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:112622744G>A uc021reb.1 - 60 10020 c.9624C>T c.(9622-9624)agC>agT p.S3208S NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TGCCTCCGATGCTGAGCACGG 0.627 DDX54 79039 broad.mit.edu 37 12 113600992 113600992 + Silent SNP G G T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr12:113600992G>T uc001tuq.4 - 15 2054 c.2026C>A c.(2026-2028)Cgg>Agg p.R676R DDX54_uc001tup.3_Silent_p.R676R NM_001111322 NP_001104792 Q8TDD1 DDX54_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA. 676 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity p.R676L(1) breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCCTGGTCCCGCTGCCGGGCC 0.667 LTBP2 4053 broad.mit.edu 37 14 74991895 74991895 + Missense_Mutation SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:74991895C>G uc001xqa.3 - 14 2849 c.2462G>C c.(2461-2463)gGg>gCg p.G821A NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 821 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding p.G821R(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTCTGCAATCCCCTGTTCAGG 0.612 LTBP2 4053 broad.mit.edu 37 14 74991927 74991927 + Silent SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:74991927C>G uc001xqa.3 - 15 2816 c.2429_splice c.e15-1 p.G810_splice NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 810 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TTGTGGCATTCCCTGTGGAGG 0.597 STON2 85439 broad.mit.edu 37 14 81744671 81744671 + Missense_Mutation SNP G G C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:81744671G>C uc010tvu.2 - 3 1182 c.984C>G c.(982-984)atC>atG p.I328M STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.2_Missense_Mutation_p.I125M NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 328 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGAAAGGGTTGATAGGGGAGG 0.512 C14orf109 26175 broad.mit.edu 37 14 93651787 93651787 + Missense_Mutation SNP T T A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr14:93651787T>A uc001ybk.4 + MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.S19T|C14orf109_uc021sax.1_5'Flank NM_015676 NP_056491 Q8N6I4 CN109_HUMAN Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA. integral to membrane kidney(1) 1 all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) GCTGAGTGACTCTTTAACGCT 0.502 RLTPR 146206 broad.mit.edu 37 16 67683828 67683828 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr16:67683828C>T uc002etn.3 + 20 2159 c.2039C>T c.(2038-2040)gCg>gTg p.A680V RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.2_Missense_Mutation_p.A644V NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 680 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTGGCCCAGGCGCAGCGCAGC 0.647 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:7578203C>T uc002gim.2 - 5 840 c.646G>A c.(646-648)Gtg>Atg p.V216M TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 216 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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) GGCACCACCACACTATGTCGA 0.537 111 """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) PLXDC1 57125 broad.mit.edu 37 17 37265501 37265501 + Silent SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:37265501C>T uc002hrg.2 - 3 611 c.399_splice c.e3+1 p.S133_splice PLXDC1_uc002hrh.2_Splice_Site|PLXDC1_uc002hri.2_Splice_Site|PLXDC1_uc002hrj.1_Splice_Site|PLXDC1_uc002hrk.1_Splice_Site NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 133 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GGGCACTCACCGAAGCCTGCC 0.657 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:39254054A>T uc010wfo.2 - 0 322 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA. 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(8) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677 SCN4A 6329 broad.mit.edu 37 17 62036660 62036660 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr17:62036660C>T uc002jds.1 - 11 2061 c.1984G>A c.(1984-1986)Gta>Ata p.V662I NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 662 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGTCCCTGTACGTTGGCCAGG 0.592 PALM 5064 broad.mit.edu 37 19 746653 746653 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr19:746653G>A uc002lpm.1 + 8 1197 c.1003G>A c.(1003-1005)Gct>Act p.A335T PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T NM_002579 NP_002570 O75781 PALM_HUMAN Homo sapiens paralemmin (PALM), transcript variant 1, mRNA. 335 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)|Lung(535;0.201) CGAAGACGCGGCTGAGCCCAA 0.647 SAFB2 9667 broad.mit.edu 37 19 5587954 5587954 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr19:5587954C>T uc002mcd.3 - 18 2775 c.2563G>A c.(2563-2565)Gag>Aag p.E855K NM_014649 NP_055464 Q14151 SAFB2_HUMAN Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA. 855 Gly-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TGGTGCTCCTCTAGCCGCTGG 0.652 IFT172 26160 broad.mit.edu 37 2 27670769 27670769 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:27670769C>A uc002rku.3 - 40 4500 c.4449G>T c.(4447-4449)agG>agT p.R1483S IFT172_uc010ezb.3_Non-coding_Transcript NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 1483 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGTGAAGATCCTTTTGTAGA 0.502 CAPN13 92291 broad.mit.edu 37 2 30959413 30959413 + Missense_Mutation SNP G G T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:30959413G>T uc021vfn.1 - 16 1710 c.1678C>A c.(1678-1680)Caa>Aaa p.Q560K CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.Q556K NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 560 EF-hand 1. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AACTCCTCTTGGTCTAGCCGC 0.537 FAM82A1 151393 broad.mit.edu 37 2 38202445 38202445 + Missense_Mutation SNP T T C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:38202445T>C uc002rqn.2 + 3 1378 c.1252T>C c.(1252-1254)Tat>Cat p.Y418H FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rql.3_Missense_Mutation_p.Y240H|FAM82A1_uc021vga.1_Missense_Mutation_p.Y240H|FAM82A1_uc002rqm.3_Missense_Mutation_p.Y95H NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 240 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 AAAGAAACATTATGCTAATAT 0.323 SULT1C4 27233 broad.mit.edu 37 2 108999906 108999906 + Silent SNP A A T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:108999906A>T uc002tea.1 + 4 928 c.555A>T c.(553-555)ggA>ggT p.G185G SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.G110G NM_006588 NP_006579 O75897 ST1C4_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA. 185 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ATGTGAAAGGATGGTGGGAAG 0.478 RPRM 56475 broad.mit.edu 37 2 154334770 154334770 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:154334770C>T uc002tyq.1 - 0 553 c.310G>A c.(310-312)Gtg>Atg p.V104M NM_019845 NP_062819 Q9NS64 RPRM_HUMAN Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA. 104 cell cycle arrest cytoplasm|integral to membrane protein binding large_intestine(2)|lung(1)|prostate(1) 4 CCCACGACCACCGCCTCCACC 0.637 STAT4 6775 broad.mit.edu 37 2 192011451 192011451 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:192011451G>A uc002usm.2 - 2 476 c.161C>T c.(160-162)aCg>aTg p.T54M STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.4_Missense_Mutation_p.T54M|STAT4_uc010zgl.2_Missense_Mutation_p.T54M NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 54 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AAGAAGAATCGTTGCCATGGT 0.323 CD28 940 broad.mit.edu 37 2 204599561 204599561 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr2:204599561C>T uc002vah.4 + 3 811 c.589C>T c.(589-591)Cgc>Tgc p.R197C CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript NM_006139 NP_006130 P10747 CD28_HUMAN Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA. 197 cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CATGACTCCCCGCCGCCCCGG 0.597 ANGPT4 51378 broad.mit.edu 37 20 860425 860425 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:860425C>T uc002wei.3 - 5 1121 c.1018G>A c.(1018-1020)Gtg>Atg p.V340M ANGPT4_uc010zpn.2_Missense_Mutation_p.V334M NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 340 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TGAAAATTCACGGTGCCATTC 0.617 PTPRT 11122 broad.mit.edu 37 20 41306569 41306569 + Nonsense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:41306569G>A uc002xkg.3 - 6 1274 c.1090C>T c.(1090-1092)Cga>Tga p.R364* PTPRT_uc010ggj.3_Nonsense_Mutation_p.R364* NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 364 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCACCTGGTCGTGTGAGGAGC 0.562 MATN4 8785 broad.mit.edu 37 20 43927042 43927042 + Silent SNP A A T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:43927042A>T uc002xnn.2 - 6 1381 c.1194T>A c.(1192-1194)ccT>ccA p.P398P MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 439 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) AGCGACCCAGAGGGAACTCGG 0.662 MATN4 8785 broad.mit.edu 37 20 43933002 43933002 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:43933002G>A uc002xnn.2 - 2 696 c.509C>T c.(508-510)gCg>gTg p.A170V MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 170 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) CACCCCCACCGCGTAAATTTC 0.706 MMP9 4318 broad.mit.edu 37 20 44641083 44641083 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr20:44641083G>A uc002xqz.3 + 7 1211 c.1192G>A c.(1192-1194)Gtg>Atg p.V398M NM_004994 NP_004985 P14780 MMP9_HUMAN Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA. 398 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TTTGTTCCTCGTGGCGGCGCA 0.662 MIOX 55586 broad.mit.edu 37 22 50928230 50928230 + Missense_Mutation SNP G G A rs140377157 byFrequency TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr22:50928230G>A uc003bll.1 + 9 917 c.803G>A c.(802-804)cGg>cAg p.R268Q MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN Homo sapiens myo-inositol oxygenase (MIOX), mRNA. 268 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GACAAGCTGCGGCCCTACTAC 0.662 SCN5A 6331 broad.mit.edu 37 3 38592026 38592026 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr3:38592026C>A uc021wvo.1 - 26 5889 c.5837G>T c.(5836-5838)gGc>gTc p.G1946V SCN5A_uc021wvk.1_Missense_Mutation_p.G1913V|SCN5A_uc021wvl.1_Missense_Mutation_p.G1892V|SCN5A_uc021wvm.1_Missense_Mutation_p.G1928V|SCN5A_uc021wvn.1_Missense_Mutation_p.G1945V|SCN5A_uc021wvp.1_Missense_Mutation_p.G1946V|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1758V|SCN5A_uc021wvi.1_Missense_Mutation_p.G1812V NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1946 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCGATGAGGCCCTCTCGCTC 0.622 SNRK 54861 broad.mit.edu 37 3 43381834 43381834 + Missense_Mutation SNP A A C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr3:43381834A>C uc003cms.4 + 4 1119 c.787A>C c.(787-789)Att>Ctt p.I263L SNRK_uc003cmt.4_Missense_Mutation_p.I263L|SNRK_uc010hik.3_Missense_Mutation_p.I263L|SNRK_uc011azr.2_Missense_Mutation_p.I57L NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA. 263 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) TTTAGAAGAGATTGAAAATCA 0.443 LETM1 3954 broad.mit.edu 37 4 1818642 1818642 + Splice_Site SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:1818642C>T uc003gdv.3 - 12 2041 c.1744_splice c.e12-1 p.D582_splice NM_012318 NP_036450 O95202 LETM1_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA. 582 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CCTGCAAGTCCTAATAAAATT 0.408 WHSC1 7468 broad.mit.edu 37 4 1978378 1978378 + Silent SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:1978378C>A uc003gdz.4 + 20 3974 c.3798C>A c.(3796-3798)tcC>tcA p.S1266S WHSC1_uc003geb.4_Silent_p.S1266S|WHSC1_uc003gec.4_Silent_p.S1266S|WHSC1_uc003ged.4_Silent_p.S1266S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.S485S|WHSC1_uc011bvh.2_Silent_p.S327S|WHSC1_uc010icf.3_Silent_p.S614S NM_001042424 NP_579890 O96028 NSD2_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA. 1266 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ACCACCTGTCCTGCCTGGGCC 0.657 T IGH@ MM FAM193A 8603 broad.mit.edu 37 4 2692666 2692667 + Frame_Shift_Del DEL CA CA - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:2692666_2692667delCA uc010ick.3 + 13 2500_2501 c.2499_2500delCA c.(2497-2502)ttcagafs p.F833fs FAM193A_uc003gfd.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.F633fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 633 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ACAGCCAGTTCAGAGTGTCATC 0.530 USP46 64854 broad.mit.edu 37 4 53468067 53468067 + Silent SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:53468067C>G uc003gzn.3 - 6 1061 c.876G>C c.(874-876)ctG>ctC p.L292L USP46_uc003gzm.4_Silent_p.L285L|USP46_uc011bzr.2_Silent_p.L269L|USP46_uc011bzs.2_Silent_p.L176L NM_022832 NP_073743 P62068 UBP46_HUMAN Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA. 292 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) ACATGCGGTCCAGGTTCACTG 0.537 C4orf40 401137 broad.mit.edu 37 4 71024299 71024299 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:71024299G>A uc003hfa.4 + 3 403 c.330G>A c.(328-330)ccG>ccA p.P110P C4orf40_uc003hfb.4_Silent_p.P110P NM_214711 NP_999876 Q6MZM9 CD040_HUMAN Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA. 110 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGGGTTTCCCGTTTGTCCCTC 0.532 PRDM5 11107 broad.mit.edu 37 4 121720881 121720884 + Frame_Shift_Del DEL CAAT CAAT - rs34666716 byFrequency TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr4:121720881_121720884delCAAT uc003idn.3 - 8 1212_1215 c.962_965delATTG c.(961-966)gattgtfs p.D321fs PRDM5_uc003ido.3_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.3_Frame_Shift_Del_p.D290fs NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN Homo sapiens PR domain containing 5 (PRDM5), mRNA. 321 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.D321Y(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ACATTCTTGACAATCAAATATCTC 0.309 GPR98 84059 broad.mit.edu 37 5 89981612 89981612 + Missense_Mutation SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:89981612G>A uc003kju.3 + 28 6386 c.6290G>A c.(6289-6291)cGt>cAt p.R2097H GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2097 R -> C (in dbSNP:rs16868974). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AATTCTCCACGTCTTGGGCCT 0.423 ADAMTS19 171019 broad.mit.edu 37 5 128957961 128957961 + Missense_Mutation SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:128957961C>G uc003kvb.1 + 9 1672 c.1672C>G c.(1672-1674)Ctg>Gtg p.L558V ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 558 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCCCTCCAAGCTGCCAGGGAT 0.468 GABRA6 2559 broad.mit.edu 37 5 161116169 161116169 + Missense_Mutation SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:161116169C>A uc003lyu.2 + 3 778 c.440C>A c.(439-441)aCc>aAc p.T147N GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 147 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTTTATACACCATGAGGTGA 0.373 TCGA Ovarian(5;0.080) DDX41 51428 broad.mit.edu 37 5 176943782 176943782 + Missense_Mutation SNP C C G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr5:176943782C>G uc003mho.3 - 1 103 c.82G>C c.(82-84)Gag>Cag p.E28Q DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA. 28 PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150). apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TCGTCGTCCTCATCTTCCGCC 0.706 GPR116 221395 broad.mit.edu 37 6 46826114 46826114 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:46826114C>T uc003oyo.3 - 16 3815 c.3526G>A c.(3526-3528)Gcc>Acc p.A1176T GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 1176 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GCTGGGATGGCGAAAGCCAGC 0.547 NT5E 4907 broad.mit.edu 37 6 86197137 86197137 + Missense_Mutation SNP A A G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:86197137A>G uc003pko.4 + 4 1590 c.1034A>G c.(1033-1035)tAt>tGt p.Y345C NT5E_uc010kbr.3_Missense_Mutation_p.Y345C NM_002526 NP_002517 P21589 5NTD_HUMAN Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA. 345 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ACAATTGTCTATCTGGATGGC 0.393 MDN1 23195 broad.mit.edu 37 6 90362720 90362720 + Frame_Shift_Del DEL C C - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:90362720delC uc003pnn.1 - 93 15932 c.15816delG c.(15814-15816)acgfs p.T5272fs NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 5272 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.T5272A(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTGGAAGATCGTGTCCATGA 0.338 MAP3K7 6885 broad.mit.edu 37 6 91281453 91281453 + Missense_Mutation SNP A A G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:91281453A>G uc003pnz.1 - 1 499 c.194T>C c.(193-195)aTa>aCa p.I65T MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 65 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCACTTTCTATTTGTTTAAT 0.338 SLC16A10 117247 broad.mit.edu 37 6 111498841 111498841 + Silent SNP T T C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:111498841T>C uc003pus.3 + 2 1090 c.915T>C c.(913-915)ttT>ttC p.F305F SLC16A10_uc003pur.4_Silent_p.F305F|SLC16A10_uc003put.3_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA. 305 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TTGCACTTTTTGGATACTTTG 0.363 RSPH4A 345895 broad.mit.edu 37 6 116938051 116938051 + Nonsense_Mutation SNP G G T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:116938051G>T uc003pxe.2 + 0 410 c.265G>T c.(265-267)Gag>Tag p.E89* RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89* NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA. 89 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTCTCCGCGGGAGCCCTCTTC 0.647 Kartagener syndrome RFX6 222546 broad.mit.edu 37 6 117244279 117244279 + Missense_Mutation SNP C C A rs144863251 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:117244279C>A uc003pxm.3 + 13 1510 c.1447C>A c.(1447-1449)Caa>Aaa p.Q483K NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 483 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.Q483K(2) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GACCAGCAAACAAAATGGAAG 0.363 CNKSR3 154043 broad.mit.edu 37 6 154743668 154743668 + Frame_Shift_Del DEL T T - TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:154743668delT uc021zhc.1 - 8 1422 c.917delA c.(916-918)aacfs p.N306fs CNKSR3_uc003qpy.3_Frame_Shift_Del_p.N306fs NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN Homo sapiens CNKSR family member 3 (CNKSR3), mRNA. 306 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CCACCGTAGGTTTTTCAGGGG 0.448 DLL1 28514 broad.mit.edu 37 6 170599203 170599203 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr6:170599203G>A uc003qxm.3 - 0 495 c.25C>T c.(25-27)Ctg>Ttg p.L9L DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L NM_005618 NP_005609 O00548 DLL1_HUMAN Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA. 9 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGCACCGCCAGGGCCAGCGCG 0.761 HOXA6 3203 broad.mit.edu 37 7 27186942 27186942 + Missense_Mutation SNP T T G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:27186942T>G uc003syo.2 - 0 452 c.427A>C c.(427-429)Atg>Ctg p.M143L HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Missense_Mutation_p.S9A NM_024014 NP_076919 P31267 HXA6_HUMAN Homo sapiens homeobox A6 (HOXA6), mRNA. 143 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 CAGGAGTTCATCCGCTGCATC 0.562 NME8 51314 broad.mit.edu 37 7 37903981 37903981 + Silent SNP G G C TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:37903981G>C uc003tfn.3 + 8 858 c.486G>C c.(484-486)ccG>ccC p.P162P NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 162 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TTATCAAACCGGATGCTGTGA 0.284 ABCB1 5243 broad.mit.edu 37 7 87179256 87179256 + Missense_Mutation SNP G G A rs142600685 byFrequency TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:87179256G>A uc003uiz.2 - 13 1958 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C ABCB1_uc011khc.2_Missense_Mutation_p.R425C NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 489 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CGGCCATAGCGAATGTTTTCA 0.428 MCM7 4176 broad.mit.edu 37 7 99693696 99693696 + Silent SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:99693696C>T uc003usw.1 - 10 1806 c.1296G>A c.(1294-1296)ggG>ggA p.G432G MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA. 432 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCACCAGGGCCCCACCCTCTA 0.612 MUC17 140453 broad.mit.edu 37 7 100681846 100681846 + Silent SNP C C T rs138267850 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:100681846C>T uc003uxp.1 + 2 7202 c.7149C>T c.(7147-7149)gaC>gaT p.D2383D MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2383 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A2382V(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTGCTGACGATACTAGCA 0.498 PIK3CG 5294 broad.mit.edu 37 7 106508257 106508257 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr7:106508257C>T uc003vdv.4 + 1 336 c.251C>T c.(250-252)gCg>gTg p.A84V PIK3CG_uc003vdu.3_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A84V NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 84 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACCAGCGTGGCGGCGGACTTC 0.637 EBF2 64641 broad.mit.edu 37 8 25766052 25766052 + Missense_Mutation SNP G G T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr8:25766052G>T uc003xes.2 - 6 836 c.571C>A c.(571-573)Ctc>Atc p.L191I DOCK5_uc003xek.3_Intron NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 191 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGCACTTGAGGAAAAATTTT 0.363 TMC1 117531 broad.mit.edu 37 9 75441788 75441789 + Frame_Shift_Ins INS - - A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr9:75441788_75441789insA uc004aiz.1 + 20 2547_2548 c.2007_2008insA c.(2005-2010)ggcaaafs p.G669fs TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 669 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CCCCCAGTGGCAAAAATAGAAT 0.411 ACTL7B 10880 broad.mit.edu 37 9 111618206 111618206 + Missense_Mutation SNP G G A rs139165156 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr9:111618206G>A uc004bdi.3 - 0 70 c.5C>T c.(4-6)gCg>gTg p.A2V NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN Homo sapiens actin-like 7B (ACTL7B), mRNA. 2 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTTCCTTGTCGCCATCTGCCT 0.667 COL5A1 1289 broad.mit.edu 37 9 137620520 137620520 + Missense_Mutation SNP C C T rs148548209 TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chr9:137620520C>T uc004cfe.3 + 5 1173 c.791C>T c.(790-792)aCg>aTg p.T264M NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 264 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTTCAGTACACGGAAGGAGAC 0.612 EIF1AX 1964 broad.mit.edu 37 X 20148634 20148634 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:20148634G>A uc004czt.3 - 6 637 c.429_splice c.e6+1 p.D143_splice NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 143 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 ATCTACTTACGTCATCAATAT 0.338 ZNF674 641339 broad.mit.edu 37 X 46359485 46359485 + Silent SNP G G T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:46359485G>T uc004dgr.3 - 5 1766 c.1539C>A c.(1537-1539)atC>atA p.I513I ZNF674_uc011mlg.2_Silent_p.I507I|ZNF674_uc022bvl.1_Silent_p.I508I NM_001039891 NP_001034980 Q2M3X9 ZN674_HUMAN Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA. 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 TCTGATGTTTGATGAGAGTTG 0.398 LOC100133957 100133957 broad.mit.edu 37 X 47518408 47518408 + Silent SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:47518408C>T uc011mlt.1 + 0 157 c.84C>T c.(82-84)ctC>ctT p.L28L UXT_uc022bvp.1_Intron|UXT_uc004din.3_Intron|UXT_uc004dim.3_5'UTR|LOC100133957_uc011mls.1_Silent_p.L28L Homo sapiens uncharacterized LOC100133957 (LOC100133957), non-coding RNA. TCTCTACCCTCTCAACGCTGG 0.642 ACRC 93953 broad.mit.edu 37 X 70830591 70830591 + Missense_Mutation SNP A A G TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:70830591A>G uc004eae.2 + 10 2173 c.1672A>G c.(1672-1674)Agc>Ggc p.S558G BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN Homo sapiens acidic repeat containing (ACRC), mRNA. 558 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TGGCTTATGCAGCACTGGTGA 0.493 RPS4X 6191 broad.mit.edu 37 X 71492579 71492579 + Missense_Mutation SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:71492579C>T uc004ear.3 - 6 830 c.734G>A c.(733-735)cGc>cAc p.R245H NM_001007 NP_000998 P62701 RS4X_HUMAN Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA. 245 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome NS(1)|large_intestine(1) 2 Renal(35;0.156) AATGGTGAGGCGGATACCCTT 0.488 COL4A6 1288 broad.mit.edu 37 X 107407829 107407829 + Splice_Site SNP C C A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:107407829C>A uc004enw.4 - 40 4175 c.4072_splice c.e40+1 p.G1358_splice COL4A6_uc004env.4_Splice_Site_p.G1357_splice|COL4A6_uc011msn.2_Splice_Site_p.G1333_splice|COL4A6_uc010npk.3_Intron NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 1358 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCTCAACTTACCTCTTGGCCC 0.592 Alport syndrome with Diffuse Leiomyomatosis MAGEC2 51438 broad.mit.edu 37 X 141291591 141291591 + Silent SNP C C T TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d5fd73b-4cad-44ae-8c79-67f2b9d30328 e94c4f81-564e-4435-a308-6d27aa33bd82 g.chrX:141291591C>T uc022cfj.1 - 0 183 c.183G>A c.(181-183)ctG>ctA p.L61L MAGEC2_uc004fbu.2_Silent_p.L61L NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 61 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CACCAAGAATCAGAGAAGAGG 0.532 HNSCC(46;0.14)