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 EPHA10 284656 broad.mit.edu 37 1 38227511 38227511 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:38227511C>T uc009vvi.3 - 2 502 c.416G>A c.(415-417)cGt>cAt p.R139H EPHA10_uc001cbw.4_Missense_Mutation_p.R139H NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 139 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity p.R139H(2) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGACGCCCACGGCCCAGGTC 0.657 SZT2 23334 broad.mit.edu 37 1 43905598 43905598 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:43905598G>A uc001cjk.2 + 49 7002 c.4392G>A c.(4390-4392)ggG>ggA p.G1464G NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2363 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGGAAAAGGGGAACATTAGTA 0.567 DAB1 1600 broad.mit.edu 37 1 57535099 57535099 + Splice_Site SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:57535099C>T uc009vzx.1 - 8 918 c.598_splice c.e8-1 p.Y200_splice DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Splice_Site_p.Y200_splice NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 200 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ACACAATGTACTATTACAGGA 0.413 FPGT-TNNI3K 51086 broad.mit.edu 37 1 74665467 74665467 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:74665467C>T uc001dge.2 + 1 269 c.202C>T c.(202-204)Ctt>Ttt p.L68F LRRIQ3_uc001dfy.4_5'Flank|LRRIQ3_uc001dfz.4_5'Flank|FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqu.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc001dgb.2_Missense_Mutation_p.L68F|FPGT-TNNI3K_uc010oqt.2_Missense_Mutation_p.L68F NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 0 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GGAGTTACCCCTTGGAGTTCA 0.403 ST6GALNAC3 256435 broad.mit.edu 37 1 76877752 76877752 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:76877752C>T uc001dhh.2 + 2 436 c.273C>T c.(271-273)ggC>ggT p.G91G ST6GALNAC3_uc001dhg.4_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA. 91 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 AGATGGTTGGCCAGAAGGTGG 0.448 PDE4DIP 9659 broad.mit.edu 37 1 144854614 144854614 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:144854614C>T uc021ouh.1 - 41 7158 c.6856G>A c.(6856-6858)Gta>Ata p.V2286I NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.V2286I|PDE4DIP_uc001elx.4_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.4_Missense_Mutation_p.V1293I NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 2286 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTTTGGATACTTTGGTTCTC 0.498 T PDGFRB MPD LCE1E 353135 broad.mit.edu 37 1 152760044 152760044 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:152760044C>A uc021ozg.1 + 0 269 c.269C>A c.(268-270)cCc>cAc p.P90H LCE1E_uc001fan.3_Missense_Mutation_p.P90H NM_178353 NP_848130 Q5T753 LCE1E_HUMAN Homo sapiens late cornified envelope 1E (LCE1E), mRNA. 90 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CGTCACAGACCCCAGAGCTCT 0.687 RGS4 5999 broad.mit.edu 37 1 163044110 163044110 + Splice_Site SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:163044110G>A uc001gcl.4 + 6 999 c.670_splice c.e6-1 p.V224_splice RGS4_uc009wuy.3_Splice_Site_p.V127_splice|RGS4_uc009wuz.3_Splice_Site_p.C71_splice|RGS4_uc009wva.3_Splice_Site_p.V109_splice NM_001102445 NP_001106851 P49798 RGS4_HUMAN Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA. 127 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 TTGCCCCTCAGGTGAACCTGG 0.488 C1orf129 80133 broad.mit.edu 37 1 170928687 170928687 + Silent SNP T T G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:170928687T>G uc010plz.2 + 4 391 c.237T>G c.(235-237)ctT>ctG p.L79L C1orf129_uc001ghg.3_Silent_p.L79L|C1orf129_uc009wvy.3_5'UTR NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 79 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCCAAGTCTTGACAAAGTAA 0.363 CACNA1E 777 broad.mit.edu 37 1 181693656 181693656 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:181693656G>A uc009wxt.3 + 16 2320 c.2125G>A c.(2125-2127)Gcc>Acc p.A709T CACNA1E_uc001gow.3_Missense_Mutation_p.A709T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A709T NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 709 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCTCGCCAACGCCCAGGAACT 0.463 C4BPA 722 broad.mit.edu 37 1 207300203 207300203 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:207300203T>C uc001hfo.3 + 6 1046 c.852T>C c.(850-852)gaT>gaC p.D284D NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 284 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 GTGATGCTGATAGCAAATGGA 0.403 PARP1 142 broad.mit.edu 37 1 226550806 226550806 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:226550806C>T uc001hqd.4 - 20 3013 c.2842G>A c.(2842-2844)Gtc>Atc p.V948I NM_001618 NP_001609 P09874 PARP1_HUMAN Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA. 948 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TTACCTTTGACACTGTGCTTG 0.527 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA RYR2 6262 broad.mit.edu 37 1 237789020 237789020 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:237789020C>T uc001hyl.1 + 39 6202 c.6082C>T c.(6082-6084)Cgt>Tgt p.R2028C NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2028 4 X approximate repeats. 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) AATTAGAGGGCGTCTGCTATC 0.393 OR2T27 403239 broad.mit.edu 37 1 248814164 248814164 + Missense_Mutation SNP C C T rs144642254 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr1:248814164C>T uc010pzo.2 - 0 22 c.22G>A c.(22-24)Gtg>Atg p.V8M NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCGGCATACACGGAATAATTG 0.433 KIAA1462 57608 broad.mit.edu 37 10 30315264 30315264 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:30315264C>T uc009xle.2 - 2 3950 c.3813G>A c.(3811-3813)atG>atA p.M1271I KIAA1462_uc001iux.3_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.M1133I NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1271 p.R1270W(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCAGGACTCTCATCCGTGACA 0.582 RET 5979 broad.mit.edu 37 10 43604497 43604497 + Missense_Mutation SNP A A T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:43604497A>T uc001jal.3 + 5 1272 c.1082A>T c.(1081-1083)aAc>aTc p.N361I RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 361 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.R360W(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CTCAACCGGAACCTCTCCATC 0.597 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma GPRIN2 9721 broad.mit.edu 37 10 47000008 47000008 + Silent SNP G G A rs111800394 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:47000008G>A uc001jec.3 + 2 1263 c.1128G>A c.(1126-1128)ccG>ccA p.P376P GPRIN2_uc021ppt.1_Silent_p.P376P NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 376 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 AGGAGGTGCCGTCCCCTGTGC 0.657 ATRNL1 26033 broad.mit.edu 37 10 117061475 117061475 + Nonsense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr10:117061475C>T uc001lcg.3 + 16 3126 c.2740C>T c.(2740-2742)Cga>Tga p.R914* ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.2_Non-coding_Transcript NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 914 PSI 4. integral to membrane sugar binding p.R914*(2)|p.R914Q(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CAGTACGAAACGATGTGTTGA 0.453 TSPAN4 7106 broad.mit.edu 37 11 866600 866600 + Silent SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:866600A>G uc001lsd.1 + 8 896 c.687A>G c.(685-687)caA>caG p.Q229Q TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q NM_003271 NP_001020410 O14817 TSN4_HUMAN Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA. 229 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTACTGCCAAGTGGTCAAGG 0.642 OR51S1 119692 broad.mit.edu 37 11 4870245 4870245 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:4870245C>T uc010qyo.2 - 0 194 c.194G>A c.(193-195)cGc>cAc p.R65H NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R65H(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTGCATTGGGCGGTGCAGGGC 0.572 RCN1 5954 broad.mit.edu 37 11 32119964 32119964 + Missense_Mutation SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:32119964A>G uc010reb.2 + 2 783 c.517A>G c.(517-519)Aga>Gga p.R173G RCN1_uc021qfp.1_Missense_Mutation_p.R7G|RCN1_uc001mtk.3_Missense_Mutation_p.R7G NM_002901 NP_002892 Q15293 RCN1_HUMAN Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA. 173 EF-hand 3. endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) ACGTGATGAGAGAAGATTCAA 0.433 OR4C16 219428 broad.mit.edu 37 11 55340233 55340233 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:55340233C>T uc010rih.2 + 0 630 c.630C>T c.(628-630)gtC>gtT p.V210V NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TGAGTTATGTCATGCTAATAT 0.433 OR5D18 219438 broad.mit.edu 37 11 55587827 55587827 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:55587827C>A uc010rin.2 + 0 722 c.722C>A c.(721-723)aCc>aAc p.T241N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T241N(2) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GCCTTCTCCACCTGTGCCTCC 0.507 LPXN 9404 broad.mit.edu 37 11 58295179 58295179 + Silent SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:58295179A>G uc001nmw.3 - 8 1054 c.909T>C c.(907-909)ttT>ttC p.F303F LPXN_uc009ymp.3_Silent_p.F173F|LPXN_uc010rkj.2_Silent_p.F308F|LPXN_uc010rkk.2_Silent_p.F283F NM_004811 NP_004802 O60711 LPXN_HUMAN Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA. 303 LIM zinc-binding 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGCCAGTAGAAAAACTGGTGA 0.473 TYR 7299 broad.mit.edu 37 11 88911588 88911588 + Missense_Mutation SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:88911588A>G uc001pcs.3 + 0 549 c.467A>G c.(466-468)tAt>tGt p.Y156C NM_000372 NP_000363 P14679 TYRO_HUMAN Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA. 156 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) ATAGGGACCTATGGCCAAATG 0.408 FAT3 120114 broad.mit.edu 37 11 92577445 92577445 + Missense_Mutation SNP G G C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:92577445G>C uc001pdj.4 + 17 10929 c.10912G>C c.(10912-10914)Gag>Cag p.E3638Q FAT3_uc001pdi.4_Missense_Mutation_p.E78Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3638 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGTGCATGTGGAGCAGTTGGT 0.557 TCGA Ovarian(4;0.039) OR10G8 219869 broad.mit.edu 37 11 123901051 123901051 + Missense_Mutation SNP C C G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr11:123901051C>G uc001pzp.1 + 0 722 c.722C>G c.(721-723)gCc>gGc p.A241G NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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) CAGACCTGTGCCTCCCACTGT 0.547 CACNA1C 775 broad.mit.edu 37 12 2675631 2675631 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:2675631C>T uc009zdu.1 + 11 1865 c.1552C>T c.(1552-1554)Cgc>Tgc p.R518C CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 518 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AAGGAAGTGCCGCGCCGCAGT 0.562 CREBL2 1389 broad.mit.edu 37 12 12765120 12765120 + Missense_Mutation SNP A A C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:12765120A>C uc001rap.1 + 1 291 c.15_splice c.e1+1 p.K5_splice NM_001310 NP_001301 O60519 CRBL2_HUMAN Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA. 5 cell cycle|signal transduction nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Prostate(47;0.0684) BRCA - Breast invasive adenocarcinoma(232;0.0503) GATGACAGTAAGGTAAGTCTT 0.677 CNTN1 1272 broad.mit.edu 37 12 41410534 41410534 + Silent SNP A A T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:41410534A>T uc001rmm.1 + 18 2348 c.2235A>T c.(2233-2235)gcA>gcT p.A745A CNTN1_uc001rmn.1_Silent_p.A734A NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 745 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) ACATAGTGGCATTTAAGCCAT 0.368 SRGAP1 57522 broad.mit.edu 37 12 64491111 64491111 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:64491111C>T uc010ssp.1 + 14 1825 c.1769C>T c.(1768-1770)cCc>cTc p.P590L SRGAP1_uc001srv.2_Missense_Mutation_p.P527L NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA. 590 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTGGAAAACCCCCTCTTTCCT 0.378 PTPRB 5787 broad.mit.edu 37 12 70949684 70949684 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr12:70949684C>T uc001swb.4 - 16 4335 c.4305G>A c.(4303-4305)gaG>gaA p.E1435E PTPRB_uc010sto.2_Silent_p.E1345E|PTPRB_uc010stp.2_Silent_p.E1345E|PTPRB_uc001swc.4_Silent_p.E1653E|PTPRB_uc001swa.4_Silent_p.E1565E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1435 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTCAACCACCTCGCTGGTCA 0.527 PABPC3 5042 broad.mit.edu 37 13 25671682 25671682 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:25671682G>A uc001upy.3 + 0 1407 c.1346G>A c.(1345-1347)cGc>cAc p.R449H NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 449 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AGTGCTATCCGCCCAGGTGCT 0.502 ATP8A2 51761 broad.mit.edu 37 13 26273468 26273468 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:26273468C>T uc001uqk.3 + 24 2511 c.2369C>T c.(2368-2370)gCg>gTg p.A790V ATP8A2_uc010tdi.2_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 750 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCGTGCAAAGCGGTCATATGC 0.522 RNASEH2B 79621 broad.mit.edu 37 13 51530575 51530575 + Missense_Mutation SNP G G C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:51530575G>C uc001vfa.4 + 10 1303 c.904G>C c.(904-906)Ggg>Cgg p.G302R RNASEH2B_uc001vfb.4_Intron NM_024570 NP_078846 Q5TBB1 RNH2B_HUMAN Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA. 302 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) TACCTTTTTTGGGGTAAAAAA 0.299 PCDH20 64881 broad.mit.edu 37 13 61985658 61985658 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:61985658T>C uc001vid.4 - 1 2938 c.2574A>G c.(2572-2574)agA>agG p.R858R PCDH20_uc010thj.2_Silent_p.R858R NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 831 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S858C(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CTGGTTCTTTTCTTAAAAGAC 0.408 MYO16 23026 broad.mit.edu 37 13 109859100 109859100 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr13:109859100T>C uc010agk.2 + 34 6181 c.5559T>C c.(5557-5559)ccT>ccC p.P1853P MYO16_uc001vqt.1_Silent_p.P1831P NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1831 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) CCCCACCACCTTGCAAGAAGC 0.597 FKBP3 2287 broad.mit.edu 37 14 45587256 45587256 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr14:45587256C>T uc010tqf.2 - 5 945 c.595G>A c.(595-597)Gga>Aga p.G199R NM_002013 NP_002004 Q00688 FKBP3_HUMAN Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA. 199 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 CCTTTCTTTCCGTAAGCCCAT 0.378 NBEAP1 606 broad.mit.edu 37 15 20876531 20876531 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:20876531C>A uc010tze.1 - 1 289 c.82G>T c.(82-84)Ggt>Tgt p.G28C NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. TGAGATAAACCATCAAGGTAT 0.343 SPINT1 6692 broad.mit.edu 37 15 41146113 41146113 + Missense_Mutation SNP C C T rs145193299 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:41146113C>T uc001zna.3 + 4 1151 c.947C>T c.(946-948)gCg>gTg p.A316V SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 316 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGGGCTCAGGCGACTTTCCCC 0.592 PLA2G4D 283748 broad.mit.edu 37 15 42364081 42364081 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:42364081G>A uc001zox.3 - 14 1559 c.1464C>T c.(1462-1464)gtC>gtT p.V488V NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 488 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) TCAGGAAACCGACCTCATAGG 0.607 ATP8B4 79895 broad.mit.edu 37 15 50211036 50211036 + Nonsense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:50211036C>A uc001zxu.3 - 19 2177 c.2035_splice c.e19+1 p.E679_splice ATP8B4_uc010ber.3_Splice_Site_p.E552_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E489_splice|ATP8B4_uc010ufe.2_Splice_Site NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 679 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTCAAGTTACCTTGTTTGTCT 0.318 ADAM10 102 broad.mit.edu 37 15 58925426 58925426 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:58925426G>A uc002afd.1 - 8 1589 c.1145C>T c.(1144-1146)gCt>gTt p.A382V ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA. 382 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) AACTTCGTGAGCAAAAGTAAT 0.328 TMEM202 338949 broad.mit.edu 37 15 72700088 72700088 + Missense_Mutation SNP G G A rs143076809 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:72700088G>A uc002auq.3 + 4 676 c.676G>A c.(676-678)Gtc>Atc p.V226I TMEM202_uc002aur.3_Non-coding_Transcript NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN Homo sapiens transmembrane protein 202 (TMEM202), mRNA. 226 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TGATGAAAACGTCACTGTGAT 0.478 SCAMP5 192683 broad.mit.edu 37 15 75305137 75305137 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr15:75305137C>T uc002azn.2 + 2 314 c.127C>T c.(127-129)Ctc>Ttc p.L43F SCAMP5_uc002azl.2_Missense_Mutation_p.L43F|SCAMP5_uc002azm.2_Missense_Mutation_p.L43F|SCAMP5_uc002azk.2_Missense_Mutation_p.L43F|SCAMP5_uc010uly.2_Missense_Mutation_p.P24L NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 43 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 CCTCTACTACCTCTGGATGTG 0.607 CORO1A 11151 broad.mit.edu 37 16 30198720 30198720 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr16:30198720C>T uc010bzq.3 + 6 1089 c.654C>T c.(652-654)caC>caT p.H218H BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.H218H|CORO1A_uc002dwx.3_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|CORO1A_uc002dwz.1_5'Flank NM_001193333 NP_009005 P31146 COR1A_HUMAN Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA. 218 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 ACCGTCCCCACGAGGGGACCC 0.667 ARMC5 79798 broad.mit.edu 37 16 31471307 31471307 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr16:31471307C>T uc010vfn.2 + 2 871 c.747C>T c.(745-747)ggC>ggT p.G249G ARMC5_uc010vfo.2_Silent_p.G186G|ARMC5_uc002ecc.3_Silent_p.G154G|ARMC5_uc002eca.4_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G|ARMC5_uc010vfp.2_Silent_p.G154G NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 154 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GACTCGGAGGCATACTCCCTT 0.597 DNAAF1 123872 broad.mit.edu 37 16 84203678 84203678 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr16:84203678C>T uc002fhl.4 + 7 1425 c.1244C>T c.(1243-1245)aCc>aTc p.T415I DNAAF1_uc010vnw.2_Missense_Mutation_p.T179I NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA. 415 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 CCAGAGGGGACCCTCCCAGCT 0.617 TP53 7157 broad.mit.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:7578268A>C uc002gim.2 - 5 775 c.581T>G c.(580-582)cTt>cGt p.L194R TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(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) CACTCGGATAAGATGCTGAGG 0.552 111 """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) TP53 7157 broad.mit.edu 37 17 7578542 7578542 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:7578542G>A uc002gim.2 - 4 582 c.388C>T c.(388-390)Ctc>Ttc p.L130F TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.3_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91F NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 130 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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) ATCTTGTTGAGGGCAGGGGAG 0.552 111 """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) RCVRN 5957 broad.mit.edu 37 17 9808118 9808118 + Missense_Mutation SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:9808118A>G uc002gme.1 - 1 568 c.381_splice c.e1+1 p.M127_splice NM_002903 NP_002894 P35243 RECO_HUMAN Homo sapiens recoverin (RCVRN), mRNA. 127 EF-hand 3. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 GAGACTGACCATGACGATCTC 0.642 MYH4 4622 broad.mit.edu 37 17 10358321 10358321 + Missense_Mutation SNP C C T rs144778193 by1000genomes TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:10358321C>T uc002gmn.3 - 20 2483 c.2372G>A c.(2371-2373)cGc>cAc p.R791H AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 791 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R791H(2)|p.T790M(2) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GGCTTGAGTGCGCGTGATGAG 0.463 MYH1 4619 broad.mit.edu 37 17 10419368 10419368 + Missense_Mutation SNP T T A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:10419368T>A uc002gmo.3 - 4 474 c.380A>T c.(379-381)aAc>aTc p.N127I AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 127 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.V126I(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTGTAGGGGTTGACAGTGAC 0.488 ASIC2 40 broad.mit.edu 37 17 31341024 31341024 + Missense_Mutation SNP G G T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:31341024G>T uc002hht.3 - 9 2524 c.1651C>A c.(1651-1653)Ctg>Atg p.L551M ASIC2_uc002hhu.3_Missense_Mutation_p.L500M NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 500 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GTCGTCTGCAGGGGCACGTTC 0.557 ERBB2 2064 broad.mit.edu 37 17 37866667 37866667 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:37866667G>A uc002hso.3 + 6 1072 c.834G>A c.(832-834)acG>acA p.T278T ERBB2_uc010cwa.3_Silent_p.T263T|ERBB2_uc002hsm.3_Silent_p.T248T|ERBB2_uc002hsp.3_Silent_p.T81T|ERBB2_uc010cwb.3_Silent_p.T278T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T NM_004448 NP_001005862 P04626 ERBB2_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. 278 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACACAGACACGTTTGAGTCCA 0.582 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) DNAH17 8632 broad.mit.edu 37 17 76457727 76457727 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr17:76457727C>T uc010dhp.2 - 57 9363 c.9238G>A c.(9238-9240)Gca>Aca p.A3080T DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. 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) AGTTGGTCTGCGCTCTCATTC 0.527 DSG3 1830 broad.mit.edu 37 18 29046572 29046572 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr18:29046572C>T uc002kws.3 + 10 1600 c.1491C>T c.(1489-1491)ctC>ctT p.L497L NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 497 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGCTGTCCTCGAAAAAGATG 0.418 DSG3 1830 broad.mit.edu 37 18 29055684 29055684 + Missense_Mutation SNP G G A rs148716637 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr18:29055684G>A uc002kws.3 + 15 2570 c.2461G>A c.(2461-2463)Gca>Aca p.A821T DSG3_uc002kwt.3_Missense_Mutation_p.A103T NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 821 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAATGAAGGCGCAGATGCCAC 0.468 SERPINB12 89777 broad.mit.edu 37 18 61232706 61232706 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr18:61232706C>T uc010xeo.2 + 5 734 c.734C>T c.(733-735)aCg>aTg p.T245M SERPINB12_uc010xen.2_Missense_Mutation_p.T225M NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 225 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity p.T225M(1) kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AAGATGATGACGCAAAAAGGC 0.488 VMAC 400673 broad.mit.edu 37 19 5909016 5909016 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:5909016G>A uc002mds.4 + 1 423 c.373G>A c.(373-375)Gag>Aag p.E125K NM_001017921 NP_001017921 Q2NL98 VMAC_HUMAN Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA. 125 cytoplasm lung(1) 1 GGCTGAGGCTGAGCGCCTGGG 0.721 CERS4 79603 broad.mit.edu 37 19 8316117 8316117 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:8316117C>T uc002mjg.3 + 2 477 c.157C>T c.(157-159)Cgc>Tgc p.R53C CERS4_uc002mji.3_Intron|CERS4_uc010dvz.3_Missense_Mutation_p.R53C NM_024552 NP_078828 Q9HA82 CERS4_HUMAN Homo sapiens ceramide synthase 4 (CERS4), mRNA. 53 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CCTGGCCATGCGCCTTGCCTT 0.627 MUC16 94025 broad.mit.edu 37 19 8966765 8966765 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:8966765C>T uc002mkp.3 - 80 43392 c.43188G>A c.(43186-43188)tcG>tcA p.S14396S MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1196S|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14494 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 GAGCCAGTGGCGAGAAGTTAC 0.527 MUC16 94025 broad.mit.edu 37 19 9057573 9057573 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:9057573G>A uc002mkp.3 - 2 30077 c.29873C>T c.(29872-29874)aCc>aTc p.T9958I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9960 Ser-rich.|Thr-rich. 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 ACTTTTTTGGGTGGTGATGGT 0.488 ZNF443 10224 broad.mit.edu 37 19 12543219 12543219 + Missense_Mutation SNP G G T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:12543219G>T uc002mtu.3 - 2 361 c.163C>A c.(163-165)Caa>Aaa p.Q55K NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN Homo sapiens zinc finger protein 443 (ZNF443), mRNA. 55 KRAB. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TATCTATATTGATCTTCAATG 0.294 OR7A17 26333 broad.mit.edu 37 19 14991689 14991689 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:14991689C>A uc010xob.2 - 0 479 c.479G>T c.(478-480)aGc>aTc p.S160I NM_030901 NP_112163 O14581 OR7AH_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) TACCATTAAGCTTTGTGACAA 0.483 ZNF208 7757 broad.mit.edu 37 19 22155210 22155210 + Missense_Mutation SNP G G T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:22155210G>T uc021urr.1 - 3 2775 c.2626C>A c.(2626-2628)Ctt>Att p.L876I ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. p.L776I(2)|p.L876I(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGATAACTAAGGGTTGAGGGC 0.363 MAG 4099 broad.mit.edu 37 19 35801000 35801000 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:35801000C>T uc002nyy.2 + 7 1653 c.1455C>T c.(1453-1455)cgC>cgT p.R485R MAG_uc002nyx.2_Silent_p.R485R|MAG_uc010eds.2_Silent_p.R460R|MAG_uc002nyz.2_Silent_p.R485R NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 485 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCCGCCCCGCGTCATCTGCA 0.697 CGB8 94027 broad.mit.edu 37 19 49557640 49557640 + Nonsense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:49557640G>A uc002pmd.3 - 2 1626 c.406C>T c.(406-408)Cag>Tag p.Q136* CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Nonsense_Mutation_p.Q136* NM_033142 NP_149133 P01233 CGHB_HUMAN Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA. 136 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity pancreas(1) 1 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GAGGAGGCCTGGAAGCGGGGG 0.647 ZNF28 7576 broad.mit.edu 37 19 53304049 53304049 + Missense_Mutation SNP G G T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:53304049G>T uc002qad.3 - 3 1206 c.1049C>A c.(1048-1050)aCt>aAt p.T350N ZNF28_uc002qac.3_Missense_Mutation_p.T296N|ZNF28_uc010eqe.3_Missense_Mutation_p.T296N|ZNF28_uc021uza.1_Missense_Mutation_p.T297N NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTTCTCTCCAGTGTGAATTAT 0.373 NLRP7 199713 broad.mit.edu 37 19 55451268 55451268 + Missense_Mutation SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:55451268T>C uc002qih.4 - 3 995 c.919A>G c.(919-921)Agg>Ggg p.R307G NLRP7_uc010esk.3_Missense_Mutation_p.R307G|NLRP7_uc002qig.4_Missense_Mutation_p.R307G|NLRP7_uc002qii.4_Missense_Mutation_p.R307G|NLRP7_uc010esl.3_Missense_Mutation_p.R335G NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 307 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGGAGGTCCCTCAGTGCCCTG 0.617 NLRP5 126206 broad.mit.edu 37 19 56549462 56549462 + Missense_Mutation SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr19:56549462T>C uc002qmj.3 + 9 2687 c.2687T>C c.(2686-2688)cTg>cCg p.L896P NLRP5_uc002qmi.3_Missense_Mutation_p.L877P NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 896 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCCCCCAGCCTGAAATCTCTG 0.547 NCOA1 8648 broad.mit.edu 37 2 24929877 24929877 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:24929877C>T uc002rfk.3 + 10 1797 c.1538C>T c.(1537-1539)tCg>tTg p.S513L NCOA1_uc010eye.3_Missense_Mutation_p.S513L|NCOA1_uc002rfi.3_Missense_Mutation_p.S362L|NCOA1_uc002rfj.3_Missense_Mutation_p.S513L|NCOA1_uc002rfl.3_Missense_Mutation_p.S513L NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 513 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTAATATTTCGACATTAAGC 0.418 T PAX3 alveolar rhadomyosarcoma FAM179A 165186 broad.mit.edu 37 2 29268218 29268218 + Silent SNP T T A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:29268218T>A uc010ezl.3 + 18 3015 c.2664T>A c.(2662-2664)gcT>gcA p.A888A FAM179A_uc010ymm.2_Silent_p.A833A|FAM179A_uc002rmr.4_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 888 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCGCTTGCTGGGCGAGTGC 0.627 CYP1B1 1545 broad.mit.edu 37 2 38302345 38302345 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:38302345C>T uc002rqo.2 - 1 589 c.187G>A c.(187-189)Gcg>Acg p.A63T NM_000104 NP_000095 Q16678 CP1B1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA. 63 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) ACCGCCGCCGCGTTTCCGATC 0.721 ALMS1 7840 broad.mit.edu 37 2 73651879 73651879 + Silent SNP T T A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:73651879T>A uc002sje.1 + 4 1197 c.1086T>A c.(1084-1086)gcT>gcA p.A362A ALMS1_uc002sjf.1_Silent_p.A320A NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 362 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 ACAATTTAGCTGATAAAGATC 0.358 DQX1 165545 broad.mit.edu 37 2 74747143 74747143 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:74747143C>T uc010yrw.2 - 8 1679 c.1514G>A c.(1513-1515)cGt>cAt p.R505H DQX1_uc002smc.3_Missense_Mutation_p.R66H NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 505 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 GAGTGGAGGACGGGTAAACCC 0.527 MRPL30 51263 broad.mit.edu 37 2 99811636 99811636 + Missense_Mutation SNP G G C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:99811636G>C uc002szu.3 + 4 535 c.337G>C c.(337-339)Gtt>Ctt p.V113L MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.V113L|MRPL30_uc002szv.3_Missense_Mutation_p.V113L NM_145212 NP_660213 Q8TCC3 RM30_HUMAN Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 113 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 ATTGAAAGTAGTTAAGCATTT 0.333 IL36A 27179 broad.mit.edu 37 2 113763644 113763644 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:113763644G>A uc010yxr.2 + 1 104 c.104G>A c.(103-105)aGg>aAg p.R35K NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 35 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GCAGTCCCGAGGAAGGACCGT 0.512 THSD7B 80731 broad.mit.edu 37 2 138420998 138420998 + Missense_Mutation SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:138420998T>C uc002tva.1 + 24 4414 c.4414T>C c.(4414-4416)Tca>Cca p.S1472P THSD7B_uc010zbj.1_Non-coding_Transcript NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GATAATGAAATCAAATGGTTT 0.383 XIRP2 129446 broad.mit.edu 37 2 168106391 168106391 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:168106391G>A uc002udx.3 + 8 8578 c.8489G>A c.(8488-8490)cGa>cAa p.R2830Q XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2655 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATGATTGGTCGAAAAGAAGAG 0.398 TTN 7273 broad.mit.edu 37 2 179431720 179431720 + Missense_Mutation SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:179431720A>G uc021vsy.1 - 274 71660 c.71435T>C c.(71434-71436)aTg>aCg p.M23812T MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M17507T|TTN_uc021vta.1_Missense_Mutation_p.M17440T|TTN_uc021vtb.1_Missense_Mutation_p.M17315T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24739 Fibronectin type-III 73. 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) TGGATTTTTCATTAGTACTGG 0.403 TTN 7273 broad.mit.edu 37 2 179456867 179456867 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:179456867C>T uc021vsy.1 - 250 52285 c.52060G>A c.(52060-52062)Gcc>Acc p.A17354T MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11049T|TTN_uc021vta.1_Missense_Mutation_p.A10982T|TTN_uc021vtb.1_Missense_Mutation_p.A10857T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18281 Fibronectin type-III 26. 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) GACCACTGGGCGCTGGCAACA 0.448 TTN 7273 broad.mit.edu 37 2 179579856 179579856 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:179579856C>T uc021vsy.1 - 86 22550 c.22325G>A c.(22324-22326)gGc>gAc p.G7442D TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8369 Ig-like 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G7442D(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACTTCTTGCCGCTCCTAAG 0.443 SMARCAL1 50485 broad.mit.edu 37 2 217329391 217329391 + Splice_Site SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr2:217329391G>A uc002vgc.4 + 13 2471 c.2141_splice c.e13+1 p.I714_splice SMARCAL1_uc002vgd.4_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.3_Splice_Site_p.I692_splice NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 714 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CATCTGTCATGTAAGTGGTCA 0.363 Schimke Immuno-Osseous Dysplasia BPIFB6 128859 broad.mit.edu 37 20 31630672 31630672 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr20:31630672C>A uc010zuc.2 + 12 1240 c.1240C>A c.(1240-1242)Cca>Aca p.P414T BPIFB6_uc010zud.2_Missense_Mutation_p.P353T NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 414 extracellular region lipid binding AGCCTACATCCCAGTTGTCAA 0.473 CBFA2T2 9139 broad.mit.edu 37 20 32232172 32232172 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr20:32232172G>A uc002wzg.1 + 11 2072 c.1535G>A c.(1534-1536)cGc>cAc p.R512H CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H NM_005093 NP_001034798 O43439 MTG8R_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA. 512 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 AACTGTGGCCGCAAAGCCAGC 0.572 TSHZ2 128553 broad.mit.edu 37 20 51870661 51870661 + Missense_Mutation SNP G G A rs141167641 by1000genomes TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr20:51870661G>A uc002xwo.3 + 1 1551 c.664G>A c.(664-666)Gcg>Acg p.A222T TSHZ2_uc021wex.1_Missense_Mutation_p.A219T NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 222 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A222T(2)|p.A222V(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACAGTGCAGCGCGGCCTATGA 0.562 GRIK1 2897 broad.mit.edu 37 21 30949385 30949385 + Missense_Mutation SNP C C G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr21:30949385C>G uc002yno.1 - 13 2493 c.2029G>C c.(2029-2031)Gag>Cag p.E677Q GRIK1_uc002ynn.3_Missense_Mutation_p.E662Q|GRIK1_uc011acs.2_Missense_Mutation_p.E677Q|GRIK1_uc011act.2_Missense_Mutation_p.E538Q NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 677 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCCATTCTCTCTACTGTCAAG 0.448 TSPEAR 54084 broad.mit.edu 37 21 45949800 45949800 + Missense_Mutation SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr21:45949800T>C uc002zfe.1 - 4 737 c.671A>G c.(670-672)gAc>gGc p.D224G TSPEAR_uc010gpv.1_Missense_Mutation_p.D156G NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA. 224 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TGGGGTGGCGTCTGAGCCCGG 0.677 ALS2CL 259173 broad.mit.edu 37 3 46720751 46720751 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:46720751G>A uc003cqa.2 - 14 1768 c.1575C>T c.(1573-1575)gaC>gaT p.D525D ALS2CL_uc003cpx.2_5'Flank|ALS2CL_uc003cpy.2_5'Flank|ALS2CL_uc003cpz.2_Silent_p.D40D|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.D525D NM_001190707 NP_667340 Q60I27 AL2CL_HUMAN Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA. 525 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) ACAGGGAGTCGTCTTCAGAGA 0.627 MORC1 27136 broad.mit.edu 37 3 108778663 108778663 + Nonsense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:108778663C>A uc003dxl.3 - 11 1108 c.1021G>T c.(1021-1023)Gag>Tag p.E341* MORC1_uc011bhn.2_Nonsense_Mutation_p.E341* NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 341 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTTTGTTTCTCTTTAAGATTC 0.368 GOLGB1 2804 broad.mit.edu 37 3 121410932 121410932 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:121410932C>T uc010hrc.3 - 13 7405 c.7279G>A c.(7279-7281)Gag>Aag p.E2427K GOLGB1_uc003eei.4_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2388K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2347K NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2422 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ATATTCTCCTCTTCCTCCTGG 0.398 CASR 846 broad.mit.edu 37 3 122004023 122004023 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr3:122004023C>T uc003eew.4 + 6 3690 c.3252C>T c.(3250-3252)aaC>aaT p.N1084N CASR_uc003eev.4_Silent_p.N1074N NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 1074 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTACAGAAAACGTAGTGAATT 0.522 TLR1 7096 broad.mit.edu 37 4 38798595 38798595 + Missense_Mutation SNP G G A rs144775976 byFrequency TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:38798595G>A uc003gtl.3 - 3 2132 c.1858C>T c.(1858-1860)Cgg>Tgg p.R620W TLR1_uc021xnn.1_Missense_Mutation_p.R620W NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 620 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 GCCCTGCGCCGGGTCTGGGTC 0.517 PDGFRA 5156 broad.mit.edu 37 4 55138611 55138611 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:55138611G>A uc003han.4 + 8 1619 c.1288G>A c.(1288-1290)Gga>Aga p.G430R PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 430 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTCAACTGGGGGACAGACGGT 0.473 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) PDGFRA 5156 broad.mit.edu 37 4 55138664 55138664 + Missense_Mutation SNP G G C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:55138664G>C uc003han.4 + 8 1672 c.1341G>C c.(1339-1341)tgG>tgC p.W447C PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 447 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATATTGAGTGGATGATATGCA 0.438 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) FRAS1 80144 broad.mit.edu 37 4 79418093 79418093 + Silent SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:79418093C>A uc003hlb.2 + 59 9533 c.9093C>A c.(9091-9093)atC>atA p.I3031I FRAS1_uc003hlc.1_Silent_p.I33I NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 3026 Calx-beta 5. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGCCACCATCACCATATCCA 0.408 LARP7 51574 broad.mit.edu 37 4 113568448 113568448 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:113568448G>A uc003iaz.3 + 8 1226 c.761G>A c.(760-762)aGc>aAc p.S254N LARP7_uc003iay.3_Missense_Mutation_p.S247N|LARP7_uc003iba.3_Missense_Mutation_p.S168N|LARP7_uc003ibb.3_Missense_Mutation_p.S247N NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA. 247 Lys-rich. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) agcaacaCCAGCATCAGTAAA 0.403 ARFIP1 27236 broad.mit.edu 37 4 153809448 153809448 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:153809448G>A uc003imz.3 + 7 1231 c.955G>A c.(955-957)Gaa>Aaa p.E319K ARFIP1_uc003inb.3_Missense_Mutation_p.E287K|ARFIP1_uc003ina.3_Missense_Mutation_p.E287K|ARFIP1_uc003inc.3_Missense_Mutation_p.E319K|ARFIP1_uc011cij.2_Missense_Mutation_p.E139K NM_001025595 NP_001020766 P53367 ARFP1_HUMAN Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA. 319 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) GAAATTTCTAGAAGAAAATAA 0.353 ASIC5 51802 broad.mit.edu 37 4 156764950 156764950 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:156764950G>A uc003ipe.1 - 4 791 c.744C>T c.(742-744)ttC>ttT p.F248F NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA. 248 integral to membrane|plasma membrane CAGCATCAACGAAACCAAGGG 0.413 FSTL5 56884 broad.mit.edu 37 4 162459448 162459448 + Silent SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr4:162459448A>G uc003iqh.3 - 9 1618 c.1182T>C c.(1180-1182)aaT>aaC p.N394N FSTL5_uc003iqi.3_Silent_p.N393N|FSTL5_uc010iqv.3_Silent_p.N393N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 394 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCTCACTGCCATTTGCTGAAA 0.408 IRX2 153572 broad.mit.edu 37 5 2749779 2749779 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:2749779G>A uc003jda.3 - 1 614 c.372C>T c.(370-372)gaC>gaT p.D124D C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D124D NM_001134222 NP_150366 Q9BZI1 IRX2_HUMAN Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA. 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D124D(2)|p.R123Q(1) breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TGGCCGTGGCGTCCCGCGTGG 0.652 BDP1 55814 broad.mit.edu 37 5 70813215 70813215 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:70813215G>A uc003kbp.1 + 21 5190 c.4927G>A c.(4927-4929)Gaa>Aaa p.E1643K BDP1_uc003kbo.3_Missense_Mutation_p.E1643K NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1643 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CAGAATGTATGAAAATCAAAG 0.303 JMY 133746 broad.mit.edu 37 5 78612055 78612055 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:78612055T>C uc003kfx.4 + 9 3441 c.2892T>C c.(2890-2892)ctT>ctC p.L964L NM_152405 NP_689618 Q8N9B5 JMY_HUMAN Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA. 964 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ATGAAGCTCTTAGAAGAATTA 0.438 HOMER1 9456 broad.mit.edu 37 5 78697771 78697771 + Missense_Mutation SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:78697771T>C uc003kfy.3 - 5 1738 c.635A>G c.(634-636)aAa>aGa p.K212R HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Missense_Mutation_p.K38R NM_004272 NP_004263 Q86YM7 HOME1_HUMAN Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA. 212 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) AAGTTGCTGTTTCCATTGTTT 0.478 ELL2 22936 broad.mit.edu 37 5 95234136 95234136 + Missense_Mutation SNP G G T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:95234136G>T uc003klr.4 - 7 1683 c.1333C>A c.(1333-1335)Cta>Ata p.L445I NM_012081 NP_036213 O00472 ELL2_HUMAN Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA. 445 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GGACACTTTAGTAGAACGGAA 0.373 APC 324 broad.mit.edu 37 5 112174282 112174282 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:112174282T>C uc003kpz.4 + 16 3184 c.2991T>C c.(2989-2991)taT>taC p.Y997Y APC_uc011cvt.2_Silent_p.Y979Y|APC_uc003kpy.4_Silent_p.Y997Y|APC_uc010jbz.3_Silent_p.Y714Y|APC_uc010jca.3_Silent_p.Y297Y NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 997 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.Y997fs*8(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTTGCAGTTATGGTCAATACC 0.343 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) MAML1 9794 broad.mit.edu 37 5 179201677 179201677 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr5:179201677C>T uc003mkm.3 + 4 3113 c.2850C>T c.(2848-2850)ggC>ggT p.G950G MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA. 950 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACAGATGGGCGGTCGGGCGG 0.706 MYLK4 340156 broad.mit.edu 37 6 2685573 2685573 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:2685573C>A uc003mty.4 - 5 799 c.502G>T c.(502-504)Gat>Tat p.D168Y NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA. 168 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCGAAGGCATCGTACAGCTGG 0.557 HIVEP1 3096 broad.mit.edu 37 6 12164550 12164550 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:12164550T>C uc003nac.3 + 8 8192 c.8013T>C c.(8011-8013)gtT>gtC p.V2671V HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 2671 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ATTCTGAAGTTTTTACAAAGC 0.577 RNF5 6048 broad.mit.edu 37 6 32147882 32147882 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:32147882G>A uc003oaj.4 + 4 551 c.424G>A c.(424-426)Gag>Aag p.E142K AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN Homo sapiens ring finger protein 5 (RNF5), mRNA. 142 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|lung(7)|urinary_tract(2) 10 CAATGCCCATGAGCCTTTCCG 0.557 COL11A2 1302 broad.mit.edu 37 6 33133402 33133402 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:33133402C>A uc003ocx.1 - 62 4902 c.4674G>T c.(4672-4674)agG>agT p.R1558S COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1558 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.M1557I(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTGTTGGCCGCCTCATCTGCT 0.662 TFEB 7942 broad.mit.edu 37 6 41654875 41654875 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr6:41654875G>A uc021yzl.1 - 5 962 c.961C>T c.(961-963)Cgc>Tgc p.R321C TFEB_uc003oqs.1_Missense_Mutation_p.R254C|TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R254C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C NM_007162 NP_009093 P19484 TFEB_HUMAN Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA. 254 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TCCTTGATGCGGTCATTGATG 0.537 T ALPHA renal (childhood epithelioid) C7orf31 136895 broad.mit.edu 37 7 25182279 25182279 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:25182279G>A uc003sxn.1 - 7 1400 c.839C>T c.(838-840)tCg>tTg p.S280L NM_138811 NP_620166 Q8N865 CG031_HUMAN Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA. 280 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 ATGAGTGTACGAAGTGAGCCA 0.368 VPS41 27072 broad.mit.edu 37 7 38816326 38816326 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:38816326C>T uc003tgy.3 - 10 861 c.835G>A c.(835-837)Gat>Aat p.D279N VPS41_uc003tgz.3_Missense_Mutation_p.D254N|VPS41_uc010kxn.3_Missense_Mutation_p.D190N NM_014396 NP_055211 P49754 VPS41_HUMAN Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA. 279 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 ACAAGCTGATCACAGAGAGGT 0.413 URGCP 55665 broad.mit.edu 37 7 43917540 43917540 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:43917540C>T uc003tiw.3 - 5 1579 c.1522G>A c.(1522-1524)Gag>Aag p.E508K URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E465K|URGCP_uc003tiv.3_Missense_Mutation_p.E433K|URGCP_uc003tix.3_Missense_Mutation_p.E499K|URGCP_uc003tiy.3_Missense_Mutation_p.E465K|URGCP_uc003tiz.3_Missense_Mutation_p.E465K|URGCP_uc011kbj.2_Missense_Mutation_p.E465K NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 508 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AACTCCTTCTCCACTTGGGCT 0.607 POM121L12 285877 broad.mit.edu 37 7 53103790 53103790 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:53103790G>A uc003tpz.3 + 0 442 c.426G>A c.(424-426)gcG>gcA p.A142A NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 142 p.A142V(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCGGGATCGCGCCCCCTGAGC 0.721 POM121L12 285877 broad.mit.edu 37 7 53103915 53103915 + Missense_Mutation SNP A A T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:53103915A>T uc003tpz.3 + 0 567 c.551A>T c.(550-552)cAg>cTg p.Q184L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 184 p.Q184H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCGCTCAGCCAGTGCCCCAAG 0.711 DUS4L 11062 broad.mit.edu 37 7 107217955 107217955 + Missense_Mutation SNP T T G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:107217955T>G uc003veh.3 + 7 1237 c.904T>G c.(904-906)Tca>Gca p.S302A DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.S181A|DUS4L_uc022ajw.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.3_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank NM_181581 NP_853559 O95620 DUS4L_HUMAN Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA. 302 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 TAATGCTCTGTCAAGCACATC 0.353 TES 26136 broad.mit.edu 37 7 115889257 115889257 + Silent SNP T T A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:115889257T>A uc003vho.3 + 2 512 c.297T>A c.(295-297)gcT>gcA p.A99A TES_uc011kmx.2_Silent_p.A99A|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.A90A|TES_uc003vhp.3_Silent_p.A90A|TES_uc022aki.1_Non-coding_Transcript NM_015641 NP_690042 Q9UGI8 TES_HUMAN Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA. 99 PET. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) ATCCAGTTGCTGCCAAGAAGA 0.383 GRM8 2918 broad.mit.edu 37 7 126542691 126542691 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:126542691C>T uc003vlr.2 - 4 1372 c.1061G>A c.(1060-1062)cGa>cAa p.R354Q GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 354 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACATTTCTTCGATTATTGGC 0.348 HNSCC(24;0.065) AGAP3 116988 broad.mit.edu 37 7 150840450 150840450 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr7:150840450C>T uc003wjg.1 + 16 2299 c.2296C>T c.(2296-2298)Cgg>Tgg p.R766W AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W NM_031946 NP_114152 Q96P47 AGAP3_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA. 730 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACGCTGGATACGGGCCAAGTA 0.622 CLVS1 157807 broad.mit.edu 37 8 62212806 62212806 + Silent SNP T T C TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr8:62212806T>C uc003xuh.3 + 1 744 c.420T>C c.(418-420)atT>atC p.I140I CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 140 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GCAGGAAGATTCTTTTGCTGT 0.448 SBSPON 157869 broad.mit.edu 37 8 73982070 73982070 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr8:73982070C>T uc003xzf.3 - 3 852 c.647G>A c.(646-648)cGt>cAt p.R216H NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA. 216 immune response extracellular region polysaccharide binding|scavenger receptor activity TCCAGAACAACGAAGGCTCAC 0.478 LAMC3 10319 broad.mit.edu 37 9 133948659 133948659 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr9:133948659C>T uc004caa.1 + 19 3543 c.3445C>T c.(3445-3447)Ccg>Tcg p.P1149S NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 1149 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TCCCAGTCAGCCGACCAAATG 0.582 KCNT1 57582 broad.mit.edu 37 9 138657034 138657034 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chr9:138657034G>A uc011mdq.2 + 11 1267 c.1193G>A c.(1192-1194)cGg>cAg p.R398Q KCNT1_uc011mdr.2_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 398 membrane binding|calcium-activated potassium channel activity p.P397T(1)|p.R398R(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GCCCACCCCCGGCTCCAGGTG 0.642 ACE2 59272 broad.mit.edu 37 X 15582159 15582159 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:15582159C>T uc004cxa.1 - 16 2465 c.2297G>A c.(2296-2298)aGa>aAa p.R766K ACE2_uc004cxb.2_Missense_Mutation_p.R766K NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA. 766 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CTTCCGATCTCTGATCCCAGT 0.413 RS1 6247 broad.mit.edu 37 X 18690198 18690198 + Translation_Start_Site SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:18690198G>A uc004cyo.3 - 0 NM_000330 NP_000321 O15537 XLRS1_HUMAN Homo sapiens retinoschisin 1 (RS1), mRNA. cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) TCTTCCCCTCGTCCTCGGCCA 0.443 KLHL34 257240 broad.mit.edu 37 X 21674007 21674007 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:21674007C>T uc004czz.1 - 0 2442 c.1900G>A c.(1900-1902)Gag>Aag p.E634K JA611288_uc022btu.1_5'Flank NM_153270 NP_695002 Q8N239 KLH34_HUMAN Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA. 634 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 TCTCCAACCTCTCCCTCCCTC 0.637 BCOR 54880 broad.mit.edu 37 X 39932304 39932304 + Silent SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:39932304G>A uc004den.4 - 3 2587 c.2295C>T c.(2293-2295)tcC>tcT p.S765S BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 765 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CCAAAATCTCGGAAAACCGAT 0.512 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic BMP15 9210 broad.mit.edu 37 X 50653945 50653945 + Silent SNP C C T rs149633402 TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:50653945C>T uc011mnw.2 + 0 211 c.162C>T c.(160-162)ggC>ggT p.G54G NM_005448 NP_005439 O95972 BMP15_HUMAN Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA. 54 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) AATCCCCTGGCGAACAGCCAA 0.592 KDM5C 8242 broad.mit.edu 37 X 53230914 53230914 + Missense_Mutation SNP G G A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:53230914G>A uc004drz.3 - 13 2412 c.1879C>T c.(1879-1881)Cgc>Tgc p.R627C KDM5C_uc022bxe.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.3_Missense_Mutation_p.R626C NM_004187 NP_004178 P41229 KDM5C_HUMAN Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA. 627 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 ATGCACTGGCGCCCAGCAGGC 0.587 """N, F, S""" clear cell renal carcinoma FAM123B 139285 broad.mit.edu 37 X 63412206 63412206 + Frame_Shift_Del DEL T T - TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:63412206delT uc022byb.1 - 0 961 c.961delA c.(961-963)agcfs p.S321fs FAM123B_uc004dvo.3_Frame_Shift_Del_p.S321fs NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 321 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 GAATCAAAGCTTTTCAGGGAT 0.522 YIPF6 286451 broad.mit.edu 37 X 67731798 67731798 + Missense_Mutation SNP T T A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:67731798T>A uc004dwz.3 + 1 450 c.165T>A c.(163-165)aaT>aaA p.N55K YIPF6_uc011mph.2_Intron NM_173834 NP_776195 Q96EC8 YIPF6_HUMAN Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA. 55 endoplasmic reticulum|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 7 CCACATTAAATGAATCTGTTC 0.393 PCDH11X 27328 broad.mit.edu 37 X 91133162 91133162 + Missense_Mutation SNP C C A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:91133162C>A uc004efk.2 + 1 2768 c.1923C>A c.(1921-1923)ttC>ttA p.F641L PCDH11X_uc004efl.2_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F641L|PCDH11X_uc004efm.2_Missense_Mutation_p.F641L|PCDH11X_uc004efn.2_Missense_Mutation_p.F641L|PCDH11X_uc004efo.2_Missense_Mutation_p.F641L|PCDH11X_uc004efh.2_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 641 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTTACACTTTCTATGTAAAGG 0.363 OCRL 4952 broad.mit.edu 37 X 128721074 128721074 + Silent SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:128721074A>G uc004euq.3 + 19 2400 c.2235A>G c.(2233-2235)ctA>ctG p.L745L OCRL_uc004eur.3_Silent_p.L737L|OCRL_uc010nrb.3_5'Flank NM_000276 NP_000267 Q01968 OCRL_HUMAN Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA. 745 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 TAGATCACCTATTCAAATACG 0.458 HTATSF1 27336 broad.mit.edu 37 X 135593609 135593609 + Missense_Mutation SNP G G T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:135593609G>T uc004ezw.3 + 9 2127 c.1705G>T c.(1705-1707)Ggt>Tgt p.G569C HTATSF1_uc004ezx.3_Missense_Mutation_p.G569C NM_001163280 NP_055315 O43719 HTSF1_HUMAN Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA. 569 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGAAGAAAATGGTCTCGAGAA 0.393 SOX3 6658 broad.mit.edu 37 X 139586804 139586804 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:139586804C>T uc004fbd.1 - 0 422 c.422G>A c.(421-423)cGg>cAg p.R141Q NM_005634 NP_005625 P41225 SOX3_HUMAN Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA. 141 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding p.R141R(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) GTTCATGGGCCGTTTCACACG 0.652 MTM1 4534 broad.mit.edu 37 X 149839946 149839946 + Missense_Mutation SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:149839946C>T uc004fef.4 + 14 1766 c.1690C>T c.(1690-1692)Cgc>Tgc p.R564C MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R527C|MTM1_uc011mxz.2_Missense_Mutation_p.R449C|MTM1_uc010nte.3_Missense_Mutation_p.R432C NM_000252 NP_000243 Q13496 MTM1_HUMAN Homo sapiens myotubularin 1 (MTM1), mRNA. 564 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) CTTAGCCTTACGCGACGAATA 0.517 GABRE 2564 broad.mit.edu 37 X 151128446 151128446 + Missense_Mutation SNP A A G TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:151128446A>G uc004ffi.3 - 5 703 c.649T>C c.(649-651)Tcc>Ccc p.S217P GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 217 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGATAGGAAACTGGAAAG 0.438 PLXNB3 5365 broad.mit.edu 37 X 153033712 153033712 + Silent SNP C C T TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:153033712C>T uc010nuk.2 + 4 1435 c.1164C>T c.(1162-1164)ccC>ccT p.P388P PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.P47P|PLXNB3_uc004fii.2_Silent_p.P365P|PLXNB3_uc011mzd.1_Silent_p.P4P NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 365 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGGATTCCCCCGAGTCGTACC 0.687 MPP1 4354 broad.mit.edu 37 X 154009984 154009984 + Missense_Mutation SNP T T A TCGA-19-1390-01A-01D-1495-08 TCGA-19-1390-10C-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e8e408-0a8f-4177-ad38-08c5da484ed0 59e90d1d-d052-4486-ba3a-85698c0ca427 g.chrX:154009984T>A uc004fmp.2 - 9 1194 c.1040A>T c.(1039-1041)gAg>gTg p.E347V MPP1_uc011mzv.2_Missense_Mutation_p.E317V|MPP1_uc010nvg.2_Missense_Mutation_p.E327V|MPP1_uc011mzw.2_Missense_Mutation_p.E330V NM_002436 NP_002427 Q00013 EM55_HUMAN Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA. 347 Guanylate kinase-like.|Interaction with MPP5. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCCAAGAACTCATTGGCAGA 0.468